{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3080192255",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 4982,
          "referenceAllele": "W",
          "start": 4981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NP_003473.3:p.Trp4982Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA384691139",
          "hgvs": "NM_003482.4:c.14945G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169264"
    }
  ],
  "type": "amino-acid"
}