{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826739935",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1093,
          "referenceAllele": "S",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NP_001274176.1:p.Ser1093Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA157391",
          "hgvs": "NM_001287247.2:c.3278C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163750"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=137439[alleleid]",
        "alleleId": 137439,
        "preferredName": "NM_000057.4(BLM):c.3278C>T (p.Ser1093Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/133700",
        "RCV": [
          "RCV000120229",
          "RCV002321599",
          "RCV001069669"
        ],
        "variationId": 133700
      }
    ]
  },
  "type": "amino-acid"
}