{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916015749",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 219,
          "referenceAllele": "D",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NP_001274176.1:p.Asp219Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA393841269",
          "hgvs": "NM_001287247.2:c.657T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA393841270",
          "hgvs": "NM_001287247.2:c.657T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163750"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=569664[alleleid]",
        "alleleId": 569664,
        "preferredName": "NM_000057.4(BLM):c.657T>G (p.Asp219Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/566463",
        "RCV": [
          "RCV000686276",
          "RCV002360716"
        ],
        "variationId": 566463
      }
    ]
  },
  "type": "amino-acid"
}