{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA091867",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1256,
          "referenceAllele": "Q",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NP_000044.2:p.Gln1256Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA388022193",
          "hgvs": "NM_000053.4:c.3767A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146606"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=546985[alleleid]",
        "alleleId": 546985,
        "preferredName": "NM_000053.4(ATP7B):c.3767A>G (p.Gln1256Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/557176",
        "RCV": [
          "RCV000673283"
        ],
        "variationId": 557176
      }
    ]
  },
  "type": "amino-acid"
}