{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826798473",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 403,
          "referenceAllele": "L",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NP_001278350.1:p.Leu403Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412792935",
          "hgvs": "NM_001291421.2:c.1207C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164682"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1300510[alleleid]",
        "alleleId": 1300510,
        "preferredName": "NM_001291415.2(KDM6A):c.2251C>T (p.Leu751Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1311129",
        "RCV": [
          "RCV001758638",
          "RCV003642975"
        ],
        "variationId": 1311129
      }
    ]
  },
  "type": "amino-acid"
}