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        "hgvsWellDefined": "NP_001361241.1:p.[Cys352_Leu358delinsProSerGly;Met360del;Thr362_Glu365delinsProGlyHis;Glu367_Met373delinsHis;Ala375_Leu381delinsCys]"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001361242.1:p.[Cys366_Leu372delinsProSerGly;Met374del;Thr376_Glu379delinsProGlyHis;Glu381_Met387delinsHis;Ala389_Leu395delinsCys]"
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      "geneSymbol": "STXBP1",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001361243.1:p.[Cys366_Leu372delinsProSerGly;Met374del;Thr376_Glu379delinsProGlyHis;Glu381_Met387delinsHis;Ala389_Leu395delinsCys]"
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      "gene": "http://reg.genome.network/gene/GN011444",
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      "hgvs": [
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      "proteinEffect": {
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
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        }
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    }
  ],
  "type": "nucleotide"
}