{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA358365",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 139,
          "referenceAllele": "R",
          "start": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023063",
      "geneNCBI_id": 55270,
      "geneSymbol": "NUDT15",
      "hgvs": [
        "NP_060753.1:p.Arg139Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA358364",
          "hgvs": "NM_018283.4:c.415C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176138"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=227129[alleleid]",
        "alleleId": 227129,
        "preferredName": "NM_018283.4(NUDT15):c.415C>T (p.Arg139Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/225201",
        "RCV": [
          "RCV000210853",
          "RCV001787328",
          "RCV003982953",
          "RCV001788069"
        ],
        "variationId": 225201
      }
    ]
  },
  "type": "amino-acid"
}