{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916028276",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 665,
          "referenceAllele": "M",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NP_001317507.1:p.Met665Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA271169",
          "hgvs": "NM_001330578.2:c.1995G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA388025730",
          "hgvs": "NM_001330578.2:c.1995G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA388025737",
          "hgvs": "NM_001330578.2:c.1995G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622650"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=167780[alleleid]",
        "alleleId": 167780,
        "preferredName": "NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/157933",
        "RCV": [
          "RCV000145256",
          "RCV000415012",
          "RCV000498564",
          "RCV000855573",
          "RCV002415630"
        ],
        "variationId": 157933
      }
    ]
  },
  "type": "amino-acid"
}