{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3088426740",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 378,
          "referenceAllele": "A",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002211",
      "geneNCBI_id": 1291,
      "geneSymbol": "COL6A1",
      "hgvs": [
        "NP_001839.2:p.Ala378Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA410524654",
          "hgvs": "NM_001848.3:c.1132G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167732"
    }
  ],
  "type": "amino-acid"
}