{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057545357",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 650,
          "referenceAllele": "W",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NP_001269153.1:p.Trp650Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA413598076",
          "hgvs": "NM_001282224.2:c.1950G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA413598077",
          "hgvs": "NM_001282224.2:c.1950G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162289"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3873674[alleleid]",
        "alleleId": 3873674,
        "preferredName": "NM_000052.7(ATP7A):c.1950G>C (p.Trp650Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3760495",
        "RCV": [
          "RCV005226501"
        ],
        "variationId": 3760495
      }
    ]
  },
  "type": "amino-acid"
}