{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827326590",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 998,
          "referenceAllele": "T",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NP_001317507.1:p.Thr998Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA388029805",
          "hgvs": "NM_001330578.2:c.2993C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2695218738",
          "hgvs": "NM_001330578.2:c.2993_2997delinsTCAAG"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622650"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2737438[alleleid]",
        "alleleId": 2737438,
        "preferredName": "NM_000053.4(ATP7B):c.3227C>T (p.Thr1076Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2572492",
        "RCV": [
          "RCV003314377"
        ],
        "variationId": 2572492
      }
    ]
  },
  "type": "amino-acid"
}