{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916046119",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 695,
          "referenceAllele": "Q",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025608",
      "geneNCBI_id": 55275,
      "geneSymbol": "VPS53",
      "hgvs": [
        "NP_001353182.1:p.Gln695Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA163215",
          "hgvs": "NM_001366253.2:c.2084A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618326"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=143136[alleleid]",
        "alleleId": 143136,
        "preferredName": "NM_001128159.3(VPS53):c.2084A>G (p.Gln695Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/139444",
        "RCV": [
          "RCV000128407",
          "RCV003556172"
        ],
        "variationId": 139444
      }
    ]
  },
  "type": "amino-acid"
}