{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826741307",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 505,
          "referenceAllele": "E",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NP_001274177.1:p.Glu505Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA157385",
          "hgvs": "NM_001287248.2:c.1513G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163751"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132946[alleleid]",
        "alleleId": 132946,
        "preferredName": "NM_000057.4(BLM):c.2638G>C (p.Glu880Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127489",
        "RCV": [
          "RCV000120227",
          "RCV000550035",
          "RCV000567138",
          "RCV000766552"
        ],
        "variationId": 127489
      }
    ]
  },
  "type": "amino-acid"
}