{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA354167",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 430,
          "referenceAllele": "C",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029203",
      "geneNCBI_id": 57465,
      "geneSymbol": "TBC1D24",
      "hgvs": [
        "NP_001186036.1:p.Cys430Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA354165",
          "hgvs": "NM_001199107.2:c.1288T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157448"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=213639[alleleid]",
        "alleleId": 213639,
        "preferredName": "NM_001199107.2(TBC1D24):c.1288T>C (p.Cys430Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242486",
        "RCV": [
          "RCV002518401"
        ],
        "variationId": 242486
      }
    ]
  },
  "type": "amino-acid"
}