CA401-NM_001014794.2-c.448+13A>G

JSON-LD

{
  "@context": "http://clingen.org/models/CanonicalAllele.jsonld",
  "@id": "http://clingendb.clingen.org/CanonicalAllele/CA401",
  "@type": "CanonicalAllele",
  "xref":
  [
    "http://clingen.org/alleleregistry/CA401"
  ],

  "id" : "CA401",
  "version": "1",
  "active": "true",
  "canonicalAlleleType": "nucleotide",
  "complexity": "simple",
  "relatedContextualAllele":
  [
    {
      "@type": "RelatedContextualAllele",
      "contextualAllele": "../../ContextualAllele/AI302",
      "display": "NM_001014794.2(ILK):c.448+13A>G",
      "preferred": "true"
    },
    {
      "@type": "RelatedContextualAllele",
      "contextualAllele": "../../ContextualAllele/AI301",
      "display": "NM_001014794.2(ILK):c.448+14A>G"
    },
    {
      "@type": "RelatedContextualAllele",
      "contextualAllele": "../../ContextualAllele/AI303",
      "display": "NC_000011.9:g.6630034A>G (GRCh37)"
    },
    {
      "@type": "RelatedContextualAllele",
      "contextualAllele": "../../ContextualAllele/AI304",
      "display": "NC_000011.10:g.6608803A>G (GRCh38)"
    }
  ]
}

example: CA401-NM_001014794.2-c.448+13A>G.json

XML

<?xml version="1.0" encoding="UTF-8"?>
<CanonicalAllele xmlns="http://clingen.org/dm/allele/v1"
	xmlns:f="http://hl7.org/fhir" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance"
	xsi:schemaLocation="http://clingen.org/dm/allele/v1 ../clingen-xsd/canonicalallele.xsd ">
	<f:id value="CA401"></f:id>
	<version value="1"></version>
	<active value="true"></active>
	<canonicalAlleleType value="nucleotide"></canonicalAlleleType>
	<complexity value="simple" />
	<relatedContextualAllele>
		<contextualAllele>
			<f:reference value="ContextualAllele/AI302"></f:reference>
			<f:display value="NM_001014794.2(ILK):c.448+13A&gt;G "></f:display>
		</contextualAllele>
		<preferred value="true"></preferred>
	</relatedContextualAllele>
	<relatedContextualAllele>
		<contextualAllele>
			<f:reference value="ContextualAllele/AI301"></f:reference>
			<f:display value="NM_001014794.2(ILK):c.448+14A&gt;G "></f:display>
		</contextualAllele>
	</relatedContextualAllele>
	<relatedContextualAllele>
		<contextualAllele>
			<f:reference value="ContextualAllele/AI303"></f:reference>
			<f:display value="NC_000011.9:g.6630034A&gt;G (GRCh37)"></f:display>
		</contextualAllele>
	</relatedContextualAllele>
	<relatedContextualAllele>
		<contextualAllele>
			<f:reference value="ContextualAllele/AI304"></f:reference>
			<f:display value="NC_000011.10:g.6608803A&gt;G (GRCh38)"></f:display>
		</contextualAllele>
	</relatedContextualAllele>
</CanonicalAllele>

example: CA401-NM_001014794.2-c.448+13A>G.xml

schema: CanonicalAllele.xsd

JSON

{
  "id": "CA401",
  "version": "1",
  "active": "true",
  "canonicalAlleleType": "nucleotide",
  "complexity": "simple",
  "relatedContextualAllele":
  [
    {
      "contextualAllele":
      {
        "reference": "ContextualAllele/AI302",
        "display": "NM_001014794.2(ILK):c.448+13A>G"
      },

      "preferred": "true"
    },

    {
      "contextualAllele":
      {
        "reference": "ContextualAllele/AI301",
        "display": "NM_001014794.2(ILK):c.448+14A>G"
      }
    },

    {
      "contextualAllele":
      {
        "reference": "ContextualAllele/AI303",
        "display": "NC_000011.9:g.6630034A>G (GRCh37)"
      }
    },

    {
      "contextualAllele":
      {
        "reference": "ContextualAllele/AI304",
        "display": "NC_000011.10:g.6608803A>G (GRCh38)"
      }
    }
  ]
}

example: CA401-NM_001014794.2-c.448+13A>G.json