clingen-data-model / allele

Documentation for data model of ClinGen
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Resource Identifiers #120

Closed ronakypatel closed 3 years ago

ronakypatel commented 9 years ago

In the documents created for Gene, is it OK to use actual gene identifiers, eg. HGNC:2344 or NCBI:3, etc instead of G101 or G102?

srynobio commented 9 years ago

I think the example is to show you what it would look like with an actual gene id (from ClinGenDB).

{
    "@context":"http://clingen.org/models/Gene.jsonld"
    "@id":"http://clingendb.clingen.org/Gene/G101",  <----The source
    "@type":"Gene",
    "id": "G101",           <---- ClinGen generated id
    "symbol": "ILK",      <---- This symbol would match the HGNC APPROVED SYMBOL.
    "name": "integrin-linked kinase",
    "xref":
    [
        "http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:6040",
        "http://www.ncbi.nlm.nih.gov/gene/3661"
    ]
}

So another way via HGNC may look like this.

{
    "@context":"https://github.com/clingen-data-model/Gene.jsonld",
    "@id":"http://www.genenames.org/", 
    "@type":"Gene",
    "id":"HGNC:6040",
    "symbol": "ILK",
    "name": "integrin-linked kinase",
    "xref":
    [
        "http://www.ncbi.nlm.nih.gov/gene/3661"
    ]
}