{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA152052",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 643,
          "referenceAllele": "R",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NP_000048.1:p.Arg643His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA152050",
          "hgvs": "NM_000057.4:c.1928G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146610"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132937[alleleid]",
        "alleleId": 132937,
        "preferredName": "NM_000057.4(BLM):c.1928G>A (p.Arg643His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127480",
        "RCV": [
          "RCV000116502",
          "RCV000211548",
          "RCV000565415",
          "RCV000857778",
          "RCV003891606"
        ],
        "variationId": 127480
      }
    ]
  },
  "type": "amino-acid"
}