{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3066501975",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 2405,
          "referenceAllele": "A",
          "start": 2404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NP_476507.3:p.Ala2405Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351189056",
          "hgvs": "NM_057166.5:c.7213G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180579"
    }
  ],
  "type": "amino-acid"
}