CA403-NP_0099225.1-BRCA1-p.Ile1766Ser

Missense amino acid change with equivalent amino acid ContextualAlleles.

JSON-LD

{
  "@context": "http://clingen.org/models/CanonicalAllele.jsonld",
  "@id": "http://clingendb.clingen.org/CanonicalAllele/CA403",
  "xref":
  [
    "http://clingen.org/alleleregistry/CA403"
  ],

  "active": "true",
  "canonicalAlleleType": "amino acid",
  "complexity": "simple",
  "relatedContextualAllele":
  [
    {
      "@type": "RelatedContextualAllele",
      "contextualAllele": "../../ContextualAllele/AI312",
      "display": "NP_009225.1(BRCA1):p.Ile1766Ser",
      "preferred": "true"
    },
    {
      "@type": "RelatedContextualAllele",
      "contextualAllele": "../../ContextualAllele/AI319",
      "display": "LRG_292p1(BRCA1):p.Ile1766Ser"
    }
  ]
}

example: CA403-NP_0099225.1-BRCA1-p.Ile1766Ser.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="CA403"></f:id>
	<version value="1"></version>
	<relatedIdentifier>
		<f:system value="http://www.ncbi.nlm.nih.gov/clinvar/variation"></f:system>
		<f:value value="37656"></f:value>
	</relatedIdentifier>
	<active value="true"></active>
	<canonicalAlleleType value="amino-acid"></canonicalAlleleType>
	<complexity value="simple" />
	<relatedContextualAllele>
		<contextualAllele>
			<f:reference value="ContextualAllele/AI312"></f:reference>
			<f:display value="NP_009225.1(BRCA1):p.Ile1766Ser"></f:display>
		</contextualAllele>
		<preferred value="true"></preferred>
	</relatedContextualAllele>
	<relatedContextualAllele>
		<contextualAllele>
			<f:reference value="ContextualAllele/AI319"></f:reference>
			<f:display value="LRG_292p1(BRCA1):p.Ile1766Ser "></f:display>
		</contextualAllele>
	</relatedContextualAllele>
</CanonicalAllele>

example: CA403-NP_0099225.1-BRCA1-p.Ile1766Ser.xml

schema: CanonicalAllele.xsd

JSON

{
  "id": "CA403",
  "version": "1",
  "relatedIdentifier":
  [
    {
      "system": "http://www.ncbi.nlm.nih.gov/clinvar/variation",
      "value": "37656"
    }
  ],

  "active": "true",
  "canonicalAlleleType": "amino-acid",
  "complexity": "simple",
  "relatedContextualAllele":
  [
    {
      "contextualAllele":
      {
        "reference": "ContextualAllele/AI312",
        "display": "NP_009225.1(BRCA1):p.Ile1766Ser"
      },

      "preferred": "true"
    },

    {
      "contextualAllele":
      {
        "reference": "ContextualAllele/AI319",
        "display": "LRG_292p1(BRCA1):p.Ile1766Ser"
      }
    }
  ]
}

example: CA403-NP_0099225.1-BRCA1-p.Ile1766Ser.json