This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.[Gly45Glu;Ter227_Arg228insAspGluGlnAlaAspPheValCysAsnThrLeuGlnProGlyCysLysAsnValCysTyrAspHisTyrPheProIleSerHisIleArgLeuTrpAlaLeuGlnLeuIlePheValSerThrProAlaLeuLeuValAlaMetHisValAlaTyrArgArgHisGluLysLysArgLysPheIleLysGlyGluIleLysSerGluPheLysAspIleGluGluIleLysThrGlnLysValArgIleGluGlySerLeuTrpTrpThrThrSerSerIlePhePheArgValIlePheGluAlaAlaPheMetTyrValPheTyrValMetTyrAspGlyPheSerMetGlnArgLeuValLysCysAsnAlaTrpProCysProAsnThrValAspCysPheValSerArgProThrGluLysThrValPheThrValPheMetIleAlaValSerGlyIleCysIleLeuLeuAsnValThrGluLeuCysTyrLeuLeuIleArgTyrCysSerGlyLysSerLysLysProValTer]