{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825280110",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1040,
          "referenceAllele": "H",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NP_001005918.1:p.His1040Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6988575",
          "hgvs": "NM_001005918.3:c.3120C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA388022381",
          "hgvs": "NM_001005918.3:c.3120C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS148283"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=547605[alleleid]",
        "alleleId": 547605,
        "preferredName": "NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1468244[alleleid]",
        "alleleId": 1468244,
        "preferredName": "NM_000053.4(ATP7B):c.3741C>A (p.His1247Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/550125",
        "RCV": [
          "RCV000664771"
        ],
        "variationId": 550125
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1458533",
        "RCV": [
          "RCV001956421",
          "RCV002261432"
        ],
        "variationId": 1458533
      }
    ]
  },
  "type": "amino-acid"
}