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
NP_001339703.1:p.Ala745_Ter746insTyrAlaAlaTrpProGlnCysGlySerSerSerGluArgLeuSerValGlnAlaMetGlyGlnAspArgLysValProGluLeuGlyLysProGlyCysAsnPheLeuLeuHisProAlaProProGluValLeuArgArgValPheLeuGlyIleValPheCysSerCysPheSerValLeuGlyMetGlyProGlyProAspThrProSerProProLeuTrpProTrpProLeuLysLeuGlnThrGlnValProIleLeuPheSerProSerAsnAlaProProAsnLeuGlnProProCysLeuGlnLeuProGlyProGlyArgAlaLeuValProSerLeuGlyLeuIlePheSerLeuAsnSerThrAspGlnLeuPro
CA399490177
NM_001352774.2:c.2238G>C
CA399490179
NM_001352774.2:c.2238G>T