{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826318231",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 993,
          "referenceAllele": "C",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NP_001230111.1:p.Cys993Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA388028466",
          "hgvs": "NM_001243182.2:c.2978G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158897"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2794716[alleleid]",
        "alleleId": 2794716,
        "preferredName": "NM_000053.4(ATP7B):c.3311G>T (p.Cys1104Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2627196",
        "RCV": [
          "RCV003388390"
        ],
        "variationId": 2627196
      }
    ]
  },
  "type": "amino-acid"
}