{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3085600287",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 400,
          "referenceAllele": "Q",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029090",
      "geneNCBI_id": 23347,
      "geneSymbol": "SMCHD1",
      "hgvs": [
        "NP_056110.2:p.Gln400Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA401697227",
          "hgvs": "NM_015295.3:c.1199A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174438"
    }
  ],
  "type": "amino-acid"
}