{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826736921",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 407,
          "referenceAllele": "R",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NP_001274175.1:p.Arg407Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA393842576",
          "hgvs": "NM_001287246.2:c.1220G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163749"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=643658[alleleid]",
        "alleleId": 643658,
        "preferredName": "NM_000057.4(BLM):c.1220G>C (p.Arg407Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/654963",
        "RCV": [
          "RCV000811037",
          "RCV002363095"
        ],
        "variationId": 654963
      }
    ]
  },
  "type": "amino-acid"
}