{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA143573",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 2241,
          "referenceAllele": "P",
          "start": 2240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NP_996816.2:p.Pro2241Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA143572",
          "hgvs": "NM_206933.3:c.6721C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185852"
    }
  ],
  "type": "amino-acid"
}