{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916015711",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 181,
          "referenceAllele": "S",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NP_001274176.1:p.Ser181Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7738307",
          "hgvs": "NM_001287247.2:c.543C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA393841014",
          "hgvs": "NM_001287247.2:c.541A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA393841018",
          "hgvs": "NM_001287247.2:c.543C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163750"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=400575[alleleid]",
        "alleleId": 400575,
        "preferredName": "NM_000057.4(BLM):c.543C>A (p.Ser181Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1803158[alleleid]",
        "alleleId": 1803158,
        "preferredName": "NM_000057.4(BLM):c.541A>C (p.Ser181Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/405277",
        "RCV": [
          "RCV000472724",
          "RCV001024105",
          "RCV003492048"
        ],
        "variationId": 405277
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1747407",
        "RCV": [
          "RCV002349459"
        ],
        "variationId": 1747407
      }
    ]
  },
  "type": "amino-acid"
}