{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916012702",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 724,
          "referenceAllele": "Q",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NP_001269153.1:p.Gln724His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA277346",
          "hgvs": "NM_001282224.2:c.2172G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA413598574",
          "hgvs": "NM_001282224.2:c.2172G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162289"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=209240[alleleid]",
        "alleleId": 209240,
        "preferredName": "NM_000052.7(ATP7A):c.2172G>T (p.Gln724His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/210416",
        "RCV": [
          "RCV000194586"
        ],
        "variationId": 210416
      }
    ]
  },
  "type": "amino-acid"
}