{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA161737",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 1376,
          "referenceAllele": "R",
          "start": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001077071.1:p.Arg1376Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA161734",
          "hgvs": "NM_001083602.3:c.4126C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150877"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50105[alleleid]",
        "alleleId": 50105,
        "preferredName": "NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41666",
        "RCV": [
          "RCV000034578",
          "RCV000121899",
          "RCV000199648",
          "RCV000390677",
          "RCV000492787"
        ],
        "variationId": 41666
      }
    ]
  },
  "type": "amino-acid"
}