{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825323609",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 3001,
          "referenceAllele": "R",
          "start": 3000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "NP_001018047.1:p.Arg3001Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5093876",
          "hgvs": "NM_001018037.2:c.9002G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149137"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=687547[alleleid]",
        "alleleId": 687547,
        "preferredName": "NM_033305.3(VPS13A):c.9119G>A (p.Arg3040Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/698636",
        "RCV": [
          "RCV000866132",
          "RCV001830891",
          "RCV002538966",
          "RCV003396507",
          "RCV003908219"
        ],
        "variationId": 698636
      }
    ]
  },
  "type": "amino-acid"
}