{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3086033372",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 378,
          "referenceAllele": "W",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "NP_004637.1:p.Trp378Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9390542",
          "hgvs": "NM_004646.4:c.1134G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA405406293",
          "hgvs": "NM_004646.4:c.1134G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170341"
    }
  ],
  "type": "amino-acid"
}