{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826736725",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 323,
          "referenceAllele": "K",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NP_001274175.1:p.Lys323Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA157436",
          "hgvs": "NM_001287246.2:c.968A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163749"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132975[alleleid]",
        "alleleId": 132975,
        "preferredName": "NM_000057.4(BLM):c.968A>G (p.Lys323Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127518",
        "RCV": [
          "RCV000120244",
          "RCV000226028",
          "RCV000575545",
          "RCV000656781",
          "RCV003492470"
        ],
        "variationId": 127518
      }
    ]
  },
  "type": "amino-acid"
}