{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826797933",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 399,
          "referenceAllele": "N",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NP_001278347.1:p.Asn399Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA329044836",
          "hgvs": "NM_001291418.2:c.1196A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164679"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1506153[alleleid]",
        "alleleId": 1506153,
        "preferredName": "NM_001291415.2(KDM6A):c.1487A>G (p.Asn496Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1380104",
        "RCV": [
          "RCV001892166",
          "RCV003407884"
        ],
        "variationId": 1380104
      }
    ]
  },
  "type": "amino-acid"
}