{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916015660",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 110,
          "referenceAllele": "D",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NP_001274176.1:p.Asp110Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA393840298",
          "hgvs": "NM_001287247.2:c.329A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163750"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=812266[alleleid]",
        "alleleId": 812266,
        "preferredName": "NM_000057.4(BLM):c.329A>G (p.Asp110Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/823490",
        "RCV": [
          "RCV001019773",
          "RCV001341837",
          "RCV001805974"
        ],
        "variationId": 823490
      }
    ]
  },
  "type": "amino-acid"
}