{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA102079",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 389,
          "referenceAllele": "R",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "NP_000262.2:p.Arg389Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA297069514",
          "hgvs": "NM_000271.5:c.1165C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146818"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=846705[alleleid]",
        "alleleId": 846705,
        "preferredName": "NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/863837",
        "RCV": [
          "RCV001070899",
          "RCV003323794"
        ],
        "variationId": 863837
      }
    ]
  },
  "type": "amino-acid"
}