{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3085600378",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 159,
          "referenceAllele": "E",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006768",
      "geneNCBI_id": 4087,
      "geneSymbol": "SMAD2",
      "hgvs": [
        "NP_005892.1:p.Glu159Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA402501910",
          "hgvs": "NM_005901.6:c.475G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171492"
    }
  ],
  "type": "amino-acid"
}