{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3082819163",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1142,
          "referenceAllele": "W",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000033",
      "geneNCBI_id": 21,
      "geneSymbol": "ABCA3",
      "hgvs": [
        "NP_001080.2:p.Trp1142Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA394316613",
          "hgvs": "NM_001089.3:c.3426G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394316614",
          "hgvs": "NM_001089.3:c.3426G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150972"
    }
  ],
  "type": "amino-acid"
}