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      "proteinEffect": {
        "hgvs": "NP_001182180.1:p.Gln130Ter",
        "hgvsWellDefined": "NP_001182180.1:p.Gln130_Glu292delinsGluAlaGluAlaGlyThrGlyLeuGluProGlySerAsnSerGlyGlnCysSerValProLeuLysLysGlyLysAspAlaProIleLysLysGluSerLeuGlyHisTrpSerGlnGlyLeuLysIleSerMetGlnAspProLysMetGlnValTyrLysAspGluGlnValValValIleLysAspLysTyrProLysAlaArgTyrHisTrpLeuValLeuProTrpThrSerIleSerSerLeuLysAlaValAlaArgGluHisLeuGluLeuLeuLysHisMetHisThrValGlyGluLysValIleValAspPheAlaGlySerSerLysLeuArgPheArgLeuGlyTyrHisAlaIleProSerMetSerHisValHisLeuHisValIleSerGlnAspPheAspSerProCysLeuLysAsnLysLysHisTrpAsnSerPheAsnThrGluTyrPheLeuGluSerGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826200373",
      "coordinates": [
        {
          "allele": "T",
          "end": 343,
          "referenceAllele": "C",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_001195254.2:c.226C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182183.1:p.Gln76Ter",
        "hgvsWellDefined": "NP_001182183.1:p.Gln76_Gln288delinsGluAlaGluAlaGlyThrGlyLeuGluProGlySerAsnSerGlyGlnCysSerValProLeuLysLysGlyLysAspAlaProIleLysLysGluSerLeuGlyHisTrpSerGlnGlyLeuLysIleSerMetGlnAspProLysMetGlnValTyrLysAspGluGlnValValValIleLysAspLysTyrProLysAlaArgTyrHisTrpLeuValLeuProTrpThrSerIleSerSerLeuLysAlaValAlaArgGluHisLeuGluLeuLeuLysHisMetHisThrValGlyGluLysValIleValAspPheAlaGlySerSerLysLeuArgPheArgLeuGlyTyrHisAlaIleProSerMetSerHisValHisLeuHisValIleSerGlnAspPheAspSerProCysLeuLysAsnLysLysHisTrpAsnSerPheAsnThrGluTyrPheLeuGluSerGlnAlaValIleGluMetValGlnGluAlaGlyArgValThrValArgAspGlyMetProGluLeuLeuLysLeuProLeuArgCysHisGluCysGlnGlnLeuLeuProSerIleProGlnLeuLysGluHisLeuArgLysHisTrpThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713798"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830379832",
      "coordinates": [
        {
          "allele": "T",
          "end": 560,
          "referenceAllele": "C",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NM_175073.3:c.388C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_778243.1:p.Gln130Ter",
        "hgvsWellDefined": "NP_778243.1:p.Gln130_Gln342delinsGluAlaGluAlaGlyThrGlyLeuGluProGlySerAsnSerGlyGlnCysSerValProLeuLysLysGlyLysAspAlaProIleLysLysGluSerLeuGlyHisTrpSerGlnGlyLeuLysIleSerMetGlnAspProLysMetGlnValTyrLysAspGluGlnValValValIleLysAspLysTyrProLysAlaArgTyrHisTrpLeuValLeuProTrpThrSerIleSerSerLeuLysAlaValAlaArgGluHisLeuGluLeuLeuLysHisMetHisThrValGlyGluLysValIleValAspPheAlaGlySerSerLysLeuArgPheArgLeuGlyTyrHisAlaIleProSerMetSerHisValHisLeuHisValIleSerGlnAspPheAspSerProCysLeuLysAsnLysLysHisTrpAsnSerPheAsnThrGluTyrPheLeuGluSerGlnAlaValIleGluMetValGlnGluAlaGlyArgValThrValArgAspGlyMetProGluLeuLeuLysLeuProLeuArgCysHisGluCysGlnGlnLeuLeuProSerIleProGlnLeuLysGluHisLeuArgLysHisTrpThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729616"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 339,
          "referenceAllele": "C",
          "start": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015984",
      "geneNCBI_id": 54840,
      "geneSymbol": "APTX",
      "hgvs": [
        "NR_036577.2:n.339C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730341"
    }
  ],
  "type": "nucleotide"
}