{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645509966",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 250,
          "referenceAllele": "I",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NP_001268653.1:p.Ile250Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA278254",
          "hgvs": "NM_001281724.2:c.749T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162153"
    }
  ],
  "type": "amino-acid"
}