{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA891865580",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 600,
          "referenceAllele": "R",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NP_005594.2:p.Arg600Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA402560651",
          "hgvs": "NM_005603.6:c.1799G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618153"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=493748[alleleid]",
        "alleleId": 493748,
        "preferredName": "NM_001374385.1(ATP8B1):c.1799G>A (p.Arg600Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/502324",
        "RCV": [
          "RCV000593026",
          "RCV003485613",
          "RCV003471966",
          "RCV004553342"
        ],
        "variationId": 502324
      }
    ]
  },
  "type": "amino-acid"
}