{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826741483",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 588,
          "referenceAllele": "H",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NP_001274177.1:p.His588Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA344516",
          "hgvs": "NM_001287248.2:c.1762C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163751"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=51241[alleleid]",
        "alleleId": 51241,
        "preferredName": "NM_000057.4(BLM):c.2887C>T (p.His963Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1330099",
        "RCV": [
          "RCV001801116",
          "RCV001869452"
        ],
        "variationId": 1330099
      }
    ]
  },
  "type": "amino-acid"
}