G102-BRCA1

Gene example with aliases.

JSON-LD

{
  "@context": "http://clingen.org/models/Gene.jsonld",
  "@id": "http://clingendb.clingen.org/Gene/G102",
  "@type": "clingen:Gene",
  "id": "G102",
  "xref":
  [
    "http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:1100",
    "http://www.ncbi.nlm.nih.gov/gene/672"
  ],
  "symbol": "BRCA1",
  "name": "breast cancer 1, early onset",
  "aliasSymbol":
  [
    "IRIS",
    "PSCP",
    "BRCAI",
    "BRCC1",
    "FANCS",
    "PNCA4",
    "RNF53",
    "BROVCA1",
    "PPP1R53"
  ]
}

example: G102-BRCA1.json

XML

<?xml version="1.0" encoding="UTF-8"?>
<Gene 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/gene.xsd ">
	<f:id value="G102"></f:id>
	<identifier>
		<f:use value="official"></f:use>
		<f:system value="http://www.genenames.org/"></f:system>
		<f:value value="HGNC:1100"></f:value>
	</identifier>
	<identifier>
		<f:system value="http://www.ncbi.nlm.nih.gov/gene"></f:system>
		<f:value value="672"></f:value>
	</identifier>
	<symbol value="BRCA1"></symbol>
	<name value="breast cancer 1, early onset"></name>
	<aliasSymbol value="IRIS"></aliasSymbol>
	<aliasSymbol value="PSCP"></aliasSymbol>
	<aliasSymbol value="BRCAI"></aliasSymbol>
	<aliasSymbol value="BRCC1"></aliasSymbol>
	<aliasSymbol value="FANCS"></aliasSymbol>
	<aliasSymbol value="PNCA4"></aliasSymbol>
	<aliasSymbol value="RNF53"></aliasSymbol>
	<aliasSymbol value="BROVCA1"></aliasSymbol>
	<aliasSymbol value="PPP1R53"></aliasSymbol>
</Gene>

example: G102-BRCA1.xml

schema: Gene.xsd

JSON

{
  "id": "G102",
  "identifier":
  [
    {
      "use": "official",
      "system": "urn:oid:2.16.840.1.113883.6.281",
      "value": "HGNC:1100"
    },

    {
      "system": "http://www.ncbi.nlm.nih.gov/gene",
      "value": "672"
    }
  ],

  "symbol": "BRCA1",
  "name": "breast cancer 1, early onset",
  "aliasSymbol":
  [
    "IRIS",
    "PSCP",
    "BRCAI",
    "BRCC1",
    "FANCS",
    "PNCA4",
    "RNF53",
    "BROVCA1",
    "PPP1R53"
  ]
}

example: G102-BRCA1.json