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"http://reg.genome.network/gene/GN026113", "geneNCBI_id": 79600, "geneSymbol": "TCTN1", "hgvs": [ "NM_001319680.2:c.898C>T" ], "proteinEffect": { "hgvs": "NP_001306609.1:p.Arg300Ter", "hgvsWellDefined": "NP_001306609.1:p.Arg301_Val538delinsGluAspThrAspValLeuGlnProThrLeuValAsnAlaGlyHisPheSerLeuCysValAsnValValLeuGluValLysTyrSerLeuThrTyrThrAspAlaGlyGluValThrLysAlaAspLeuSerPheValLeuGlyThrValSerSerValValValProLeuGlnGlnLysPheGluIleHisPheLeuGlnGluAsnThrGlnProValProLeuSerGlyAsnProGlyTyrValValGlyLeuProLeuAlaAlaGlyPheGlnProHisLysGlyGlyAlaLeuProCysGlnLeuValAlaGlnLysValLysSerLeuLeuTrpGlyGlnGlyPheProAspTyrValAlaProPheGlyAsnSerGlnAlaGlnAspMetLeuAspTrpValProIleHisPheIleThrGlnSerPheAsnArgLysAspSerCysGlnLeuProGlyAlaLeuValIleGluValLysTrpThrLysTyrGlySerLeuLeuAsnProGlnAlaLysIleValAsnValThrAlaAsnLeuIleSerSerSerPheProGluAlaAsnSerGlyAsnGluArgThrIleLeuIleSerThrAlaValThrPheValAspValSerAlaProAlaGluAlaGlyPheArgAlaProProAlaIleAsnAlaArgLeuProPheAsnPhePhePheProPheValTer" }, "referenceSequence": 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"NP_078825.2:p.Arg287_Val573delinsGluAspThrAspValLeuGlnProThrLeuValAsnAlaGlyHisPheSerLeuCysValAsnValValLeuGluValLysTyrSerLeuThrTyrThrAspAlaGlyGluValThrLysAlaAspLeuSerPheValLeuGlyThrValSerSerValValValProLeuGlnGlnLysPheGluIleHisPheLeuGlnGluAsnThrGlnProValProLeuSerGlyAsnProGlyTyrValValGlyLeuProLeuAlaAlaGlyPheGlnProHisLysGlySerGlyIleIleGlnThrThrAsnArgTyrGlyGlnLeuThrIleLeuHisSerThrThrGluGlnAspCysLeuAlaLeuGluGlyValArgThrProValLeuPheGlyTyrThrMetGlnSerGlyCysLysLeuArgLeuThrGlyAlaLeuProCysGlnLeuValAlaGlnLysValLysSerLeuLeuTrpGlyGlnGlyPheProAspTyrValAlaProPheGlyAsnSerGlnAlaGlnAspMetLeuAspTrpValProIleHisPheIleThrGlnSerPheAsnArgLysAspSerCysGlnLeuProGlyAlaLeuValIleGluValLysTrpThrLysTyrGlySerLeuLeuAsnProGlnAlaLysIleValAsnValThrAlaAsnLeuIleSerSerSerPheProGluAlaAsnSerGlyAsnGluArgThrIleLeuIleSerThrAlaValThrPheValAspValSerAlaProAlaGluAlaGlyPheArgAlaProProAlaIleAsnAlaArgLeuProPheAsnPhePhePheProPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698711" }, { "coordinates": [ { "allele": "T", "end": 1308, "referenceAllele": "C", "start": 1307 } ], "gene": "http://reg.genome.network/gene/GN026113", "geneNCBI_id": 79600, "geneSymbol": "TCTN1", "hgvs": [ "NR_135088.2:n.1308C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS703589" } ], "type": "nucleotide" }