{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA251780",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 482,
          "referenceAllele": "C",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NP_001159399.1:p.Cys482Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA251777",
          "hgvs": "NM_001165927.1:c.1446T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2580573370",
          "hgvs": "NM_001165927.1:c.[1446T>G;1085_1087del]"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155198"
    }
  ],
  "type": "amino-acid"
}