{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3085579828",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 283,
          "referenceAllele": "Y",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "NP_056110.2:p.Tyr283Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA401693607",
          "hgvs": "NM_015295.3:c.848A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174438"
    }
  ],
  "type": "amino-acid"
}