{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916060280",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 807,
          "referenceAllele": "R",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000866",
      "geneNCBI_id": 50617,
      "geneSymbol": "ATP6V0A4",
      "hgvs": [
        "NP_570856.2:p.Arg807Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117298",
          "hgvs": "NM_130841.3:c.2420G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180953"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20198[alleleid]",
        "alleleId": 20198,
        "preferredName": "NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5159",
        "RCV": [
          "RCV000005466",
          "RCV001557688",
          "RCV001807633"
        ],
        "variationId": 5159
      }
    ]
  },
  "type": "amino-acid"
}