{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3070944194",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 170,
          "referenceAllele": "Q",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002488",
      "geneNCBI_id": 1482,
      "geneSymbol": "NKX2-5",
      "hgvs": [
        "NP_004378.1:p.Gln170Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA362161721",
          "hgvs": "NM_004387.3:c.508C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170092"
    }
  ],
  "type": "amino-acid"
}