{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3069888218",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 546,
          "referenceAllele": "W",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005394",
      "geneNCBI_id": 3426,
      "geneSymbol": "CFI",
      "hgvs": [
        "NP_000195.3:p.Trp546Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA357854501",
          "hgvs": "NM_000204.5:c.1637G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735990"
    }
  ],
  "type": "amino-acid"
}