{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826740188",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 1223,
          "referenceAllele": "G",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NP_001274176.1:p.Gly1223Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA393851524",
          "hgvs": "NM_001287247.2:c.3668G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163750"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1417296[alleleid]",
        "alleleId": 1417296,
        "preferredName": "NM_000057.4(BLM):c.4061G>A (p.Gly1354Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1504545",
        "RCV": [
          "RCV002028880",
          "RCV004046122"
        ],
        "variationId": 1504545
      }
    ]
  },
  "type": "amino-acid"
}