{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915959129",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1077,
          "referenceAllele": "R",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "NP_000262.2:p.Arg1077Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8912837",
          "hgvs": "NM_000271.5:c.3230G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146818"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=797653[alleleid]",
        "alleleId": 797653,
        "preferredName": "NM_000271.5(NPC1):c.3230G>A (p.Arg1077Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/808372",
        "RCV": [
          "RCV000996656",
          "RCV001805961",
          "RCV002549945"
        ],
        "variationId": 808372
      }
    ]
  },
  "type": "amino-acid"
}