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"NP_001093327.1:p.Gln236_Glu419delinsLeuPheGlnGluTyrAspAsnHisIleLysSerSerValValGlySerGluArgLysArgGlyMetGlnLeuGluAspLeuLysGlnGlnLeuGlnGlnAlaGluGluAlaLeuValAlaLysGlnGluValIleAspLysLeuLysGluGluAlaGluGlnHisLysIleValMetGluThrValProValLeuLysAlaGlnAlaAspIleTyrLysAlaAspPheGlnAlaGluArgGlnAlaArgGluLysLeuAlaGluLysLysGluLeuLeuGlnGluGlnLeuGluGlnLeuGlnArgGluTyrSerLysLeuLysAlaSerCysGlnGluSerAlaArgIleGluAspMetArgLysArgHisValGluValSerGlnAlaProLeuProProAlaProAlaTyrLeuSerSerProLeuAlaLeuProSerGlnArgArgSerProProGluGluProProAspPheCysCysProLysCysGlnTyrGlnAlaProAspMetAspThrLeuGlnIleHisValMetGluCysIleGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711993", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000594239.6:c.706C>T" }, "RefSeq": { "hgvs": "NM_001099857.5:c.706C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000471166.1:p.Gln236Ter" }, "RefSeq": { "hgvs": "NP_001093327.1:p.Gln236Ter" } } } } ], "type": "nucleotide" }