{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828783476",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 470,
          "referenceAllele": "R",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000865",
      "geneNCBI_id": 535,
      "geneSymbol": "ATP6V0A1",
      "hgvs": [
        "NP_001365459.1:p.Arg470Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8576277",
          "hgvs": "NM_001378530.1:c.1409G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS737986"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3297626[alleleid]",
        "alleleId": 3297626,
        "preferredName": "NM_001130021.3(ATP6V0A1):c.1286G>A (p.Arg429Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3131845",
        "RCV": [
          "RCV004418704"
        ],
        "variationId": 3131845
      }
    ]
  },
  "type": "amino-acid"
}