{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA119054",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 285,
          "referenceAllele": "D",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001509",
      "geneNCBI_id": 841,
      "geneSymbol": "CASP8",
      "hgvs": [
        "NP_203519.1:p.Asp285His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119051",
          "hgvs": "NM_033355.3:c.853G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180215"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22801[alleleid]",
        "alleleId": 22801,
        "preferredName": "NM_001372051.1(CASP8):c.853G>C (p.Asp285His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7762",
        "RCV": [
          "RCV000008203",
          "RCV000454902",
          "RCV000308703",
          "RCV001711066"
        ],
        "variationId": 7762
      }
    ]
  },
  "type": "amino-acid"
}