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          "referenceAllele": "C",
          "start": 4063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291417.2:c.3700C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278346.1:p.Arg1234Ter",
        "hgvsWellDefined": "NP_001278346.1:p.Arg1234_Ser1356delinsAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716692"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826798263",
      "coordinates": [
        {
          "allele": "T",
          "end": 3962,
          "referenceAllele": "C",
          "start": 3961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291418.2:c.3598C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278347.1:p.Arg1200Ter",
        "hgvsWellDefined": "NP_001278347.1:p.Arg1200_Ser1322delinsAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716693"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916017788",
      "coordinates": [
        {
          "allele": "T",
          "end": 3943,
          "referenceAllele": "C",
          "start": 3942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_001291421.2:c.2947C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278350.1:p.Arg983Ter",
        "hgvsWellDefined": "NP_001278350.1:p.Arg983_Ser1105delinsAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA278965",
      "coordinates": [
        {
          "allele": "T",
          "end": 4199,
          "referenceAllele": "C",
          "start": 4198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NM_021140.4:c.3835C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066963.2:p.Arg1279Ter",
        "hgvsWellDefined": "NP_066963.2:p.Arg1279_Ser1401delinsAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4118,
          "referenceAllele": "C",
          "start": 4117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012637",
      "geneNCBI_id": 7403,
      "geneSymbol": "KDM6A",
      "hgvs": [
        "NR_111960.2:n.4118C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730732"
    }
  ],
  "type": "nucleotide"
}