{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916016629",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 933,
          "referenceAllele": "G",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NP_001274177.1:p.Gly933Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7739162",
          "hgvs": "NM_001287248.2:c.2797G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA393850611",
          "hgvs": "NM_001287248.2:c.2797G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163751"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=529536[alleleid]",
        "alleleId": 529536,
        "preferredName": "NM_000057.4(BLM):c.3922G>A (p.Gly1308Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=812406[alleleid]",
        "alleleId": 812406,
        "preferredName": "NM_000057.4(BLM):c.3922G>C (p.Gly1308Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/524764",
        "RCV": [
          "RCV000628625",
          "RCV002358750",
          "RCV003237958"
        ],
        "variationId": 524764
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/824387",
        "RCV": [
          "RCV001021448",
          "RCV001303467"
        ],
        "variationId": 824387
      }
    ]
  },
  "type": "amino-acid"
}