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"geneSymbol": "SGSH", "hgvs": [ "NM_001352922.2:c.418G>T" ], "proteinEffect": { "hgvs": "NP_001339851.1:p.Glu140Ter", "hgvsWellDefined": "NP_001339851.1:p.Glu141_Ser334delinsAsnGlySerValLeuGlnValGlyArgAsnIleThrArgIleLysLeuLeuValArgLysPheLeuGlnThrGlnAspAspArgProPhePheLeuTyrValAlaPheHisAspProHisArgCysGlyHisSerGlnProGlnTyrGlyThrPheCysGluLysPheGlyAsnGlyGluSerGlyMetGlyArgIleProAspTrpThrProGlnAlaTyrAspProLeuAspValLeuValProTyrPheValProAsnThrProAlaAlaArgAlaAspLeuAlaAlaGlnTyrThrThrValGlyArgMetAspGlnGlyValGlyLeuValLeuGlnGluLeuArgAspAlaGlyValLeuAsnAspThrLeuValIlePheThrSerAspAsnGlyIleProPheProSerGlyArgThrAsnLeuTyrTrpProGlyThrAlaGluProLeuLeuValSerSerProGluHisProLysArgTrpGlyGlnValSerGluAlaTyrValSerLeuLeuGluGluLysAsnGluAlaGlnArgGlyGluValSerCysSerGlyLeuHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689497" }, { "coordinates": [ { "allele": "T", "end": 332, "referenceAllele": "G", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN010818", "geneNCBI_id": 6448, 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"NP_001339850.1:p.Glu141_Cys362delinsAsnGlySerValLeuGlnValGlyArgAsnIleThrArgIleLysLeuLeuValArgLysPheLeuGlnThrGlnAspAspArgProPhePheLeuTyrValAlaPheHisAspProHisArgCysGlyHisSerGlnProGlnTyrGlyThrPheCysGluLysPheGlyAsnGlyGluSerGlyMetGlyArgIleProAspTrpThrProGlnAlaTyrAspProLeuAspValLeuValProTyrPheValProAsnThrProAlaAlaArgAlaAspLeuAlaAlaGlnTyrThrThrValGlyArgMetAspGlnGlyValGlyLeuValLeuGlnGluLeuArgAspAlaGlyValLeuAsnAspThrLeuValIlePheThrSerAspAsnGlyIleProPheProSerGlyArgThrAsnLeuTyrTrpProGlyThrAlaGluProLeuLeuValSerSerProGluHisProLysArgTrpGlyGlnValSerGluAlaTyrValSerLeuLeuGlyThrGluAlaGlnArgAspAspValAlaValArgGlyValGlySerThrArgHisLeuProLeuLeuIleGlyLeuGluLysGlyAlaAlaGlnSerGlyValGlySerAlaLeuProArgAlaAlaProValCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720201" } ], "type": "nucleotide" }