{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3068390333",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1053,
          "referenceAllele": "E",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NP_000326.2:p.Glu1053Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA352139252",
          "hgvs": "NM_000335.5:c.3157G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146880"
    }
  ],
  "type": "amino-acid"
}