{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826182060",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 486,
          "referenceAllele": "R",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NP_001180305.1:p.Arg486Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA343424",
          "hgvs": "NM_001193376.3:c.1456C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156840"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=47707[alleleid]",
        "alleleId": 47707,
        "preferredName": "NM_198253.3(TERT):c.1456C>T (p.Arg486Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39101",
        "RCV": [
          "RCV000032367",
          "RCV002326716",
          "RCV002514131",
          "RCV002509174",
          "RCV002390127"
        ],
        "variationId": 39101
      }
    ]
  },
  "type": "amino-acid"
}