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Canonical Allele Identifier: Get Identifier
Gene: MPZ HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001302420.1:p.[Cys50delinsSerPheTrpSerSerGluTrpValSerAspAspIleSerPheThrTrpArgTyrGlnProGluGlyGlyArgAspAlaIleSerIlePheHisTyrAlaLysGlyGlnProTyrIleAspGluValGlyThrPheLysGluArgIleGlnTrpValGlyAspProArgTrpLysAspGlySerIleValIleHisAsnLeuAspTyrSerAspAsnGlyThrPheThrCysAspValLysAsnProProAspIleValGlyLysThrSerGlnValThrLeuTyrValPheGluLysValProThrArgTyrGlyValValLeuGlyAlaValIleGlyGlyValLeuGlyValValLeuLeuLeuLeuLeuLeuPheTyrValValArgTyrCysTrpLeuArgArgGlnAlaAlaLeuGlnArgArgLeuSerAlaMetGluLysGlyLysLeuHisLysProGlyLysAspAlaSerLysArgGlyArgGlnThrProValLeuTyrAlaMetLeuAspHisSerArgSerThrLysAlaValSerGluLysLysAlaLysGlyLeuGlyGluSerArgLysAspLysLysTer;Lys248_Asp311delinsTer]