{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA287095",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 1067,
          "referenceAllele": "C",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NP_000048.1:p.Cys1067Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA287093",
          "hgvs": "NM_000057.4:c.3200G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146610"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132953[alleleid]",
        "alleleId": 132953,
        "preferredName": "NM_000057.4(BLM):c.3200G>A (p.Cys1067Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127496",
        "RCV": [
          "RCV000115304",
          "RCV001275698",
          "RCV002255286"
        ],
        "variationId": 127496
      }
    ]
  },
  "type": "amino-acid"
}