{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825964669",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 469,
          "referenceAllele": "R",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NP_001157289.1:p.Arg469His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6162235",
          "hgvs": "NM_001163817.2:c.1406G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154896"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=587912[alleleid]",
        "alleleId": 587912,
        "preferredName": "NM_001360.3(DHCR7):c.1406G>A (p.Arg469His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/596851",
        "RCV": [
          "RCV000732813",
          "RCV001110781",
          "RCV001844232"
        ],
        "variationId": 596851
      }
    ]
  },
  "type": "amino-acid"
}