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: JUP HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_006721937.1:p.Ala745_Ter746insTrpAlaAlaTrpProGlnCysGlySerSerSerGluArgLeuSerValGlnAlaMetGlyGlnAspArgLysValProGluLeuGlyLysProGlyCysAsnPheLeuLeuHisProAlaProProGluValLeuArgArgValPheLeuGlyIleValPheCysSerCysPheSerValLeuGlyMetGlyProGlyProAspThrProSerProProLeuTrpProTrpProLeuLysLeuGlnThrGlnValProIleLeuPheSerProSerAsnAlaProProAsnLeuGlnProProCysLeuGlnLeuProGlyProGlyArgAlaLeuValProSerLeuGlyLeuIlePheSerLeuAsnSerThrAspGlnLeuPro
CA399490183
XM_006721874.3:c.2237A>G