{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139707275",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 218,
          "referenceAllele": "W",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011551",
      "geneNCBI_id": 2972,
      "geneSymbol": "BRF1",
      "hgvs": [
        "NP_001510.2:p.Trp218Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA391177939",
          "hgvs": "NM_001519.4:c.654G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA391177952",
          "hgvs": "NM_001519.4:c.654G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167444"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=857333[alleleid]",
        "alleleId": 857333,
        "preferredName": "NM_001519.4(BRF1):c.654G>C (p.Trp218Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/867234",
        "RCV": [
          "RCV001257319",
          "RCV002557927"
        ],
        "variationId": 867234
      }
    ]
  },
  "type": "amino-acid"
}