{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645487887",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 296,
          "referenceAllele": "Y",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NP_000048.1:p.Tyr296Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7738384",
          "hgvs": "NM_000057.4:c.887A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146610"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=400942[alleleid]",
        "alleleId": 400942,
        "preferredName": "NM_000057.4(BLM):c.887A>G (p.Tyr296Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/405307",
        "RCV": [
          "RCV000460689",
          "RCV001018434",
          "RCV001821232",
          "RCV003477941"
        ],
        "variationId": 405307
      }
    ]
  },
  "type": "amino-acid"
}