{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057218680",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 75,
          "referenceAllele": "L",
          "start": 74
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NP_001245138.1:p.Leu75Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA382890506",
          "hgvs": "NM_001258209.2:c.224T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160173"
    }
  ],
  "type": "amino-acid"
}