{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA891845571",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 126,
          "referenceAllele": "P",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NP_000048.1:p.Pro126Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA274727999",
          "hgvs": "NM_000057.4:c.376C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146610"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=573590[alleleid]",
        "alleleId": 573590,
        "preferredName": "NM_000057.4(BLM):c.376C>T (p.Pro126Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/569945",
        "RCV": [
          "RCV000690709",
          "RCV001021089"
        ],
        "variationId": 569945
      }
    ]
  },
  "type": "amino-acid"
}