{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826741139",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 428,
          "referenceAllele": "W",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NP_001274177.1:p.Trp428Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7738769",
          "hgvs": "NM_001287248.2:c.1282T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA393845247",
          "hgvs": "NM_001287248.2:c.1282T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163751"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1011723[alleleid]",
        "alleleId": 1011723,
        "preferredName": "NM_000057.4(BLM):c.2407T>C (p.Trp803Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1468338[alleleid]",
        "alleleId": 1468338,
        "preferredName": "NM_000057.4(BLM):c.2407T>A (p.Trp803Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1021353",
        "RCV": [
          "RCV001321100",
          "RCV002447359"
        ],
        "variationId": 1021353
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1485858",
        "RCV": [
          "RCV002001049"
        ],
        "variationId": 1485858
      }
    ]
  },
  "type": "amino-acid"
}