{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA256076",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 994,
          "referenceAllele": "T",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NP_000043.4:p.Thr994Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA256075",
          "hgvs": "NM_000052.7:c.2981C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146605"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26833[alleleid]",
        "alleleId": 26833,
        "preferredName": "NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11794",
        "RCV": [
          "RCV000012561",
          "RCV000789727",
          "RCV001696175"
        ],
        "variationId": 11794
      }
    ]
  },
  "type": "amino-acid"
}