{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827327085",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1189,
          "referenceAllele": "D",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NP_001317507.1:p.Asp1189Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA388022010",
          "hgvs": "NM_001330578.2:c.3566A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622650"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=547596[alleleid]",
        "alleleId": 547596,
        "preferredName": "NM_000053.4(ATP7B):c.3800A>C (p.Asp1267Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/552417",
        "RCV": [
          "RCV000667671"
        ],
        "variationId": 552417
      }
    ]
  },
  "type": "amino-acid"
}