RS213-NM_007294.3-BRCA1

BRCA1 transcript w/ Gene & Protein sequence reference.

XML

<?xml version="1.0" encoding="UTF-8"?>
<ReferenceSequence 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/referencesequence.xsd ">
	<f:id value="RS213"></f:id>
	<identifier>
		<f:system value="http://www.ncbi.nlm.nih.gov/nuccore" />
		<f:value value="NM_007294.3" />
	</identifier>
	<referenceSequenceType value="transcript"></referenceSequenceType>
	<cdsStart value="233"></cdsStart>
	<cdsEnd value="5824"></cdsEnd>
	<gene>
		<f:reference value="Gene/G102"></f:reference>
		<f:display value="BRCA1"></f:display>
	</gene>
	<related>
		<relatedType value="translates-to"></relatedType>
		<target>
			<f:reference value="ReferenceSequence/RS214"></f:reference>
			<f:display value="NP_009225.1 (BRCA1 Isoform 1)"></f:display>
		</target>
	</related>
</ReferenceSequence>

example: RS213-NM_007294.3-BRCA1.xml

schema: ReferenceSequence.xsd

JSON

{
  "id": "RS213",
  "identifier":
  [
    {
      "system": "http://www.ncbi.nlm.nih.gov/nuccore",
      "value": "NM_007294.3"
    }
  ],

  "referenceSequenceType": "transcript",
  "cdsStart": "233",
  "cdsEnd": "5824",
  "gene":
  {
    "reference": "Gene/G102"
  },

  "related":
  {
    "relatedType": "translates-to",
    "target":
    {
      "reference": "ReferenceSequence/RS214",
      "display": "NP_009225.1 (BRCA1 Isoform 1)"
    }
  }
}

example: RS213-NM_007294.3-BRCA1.json