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: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[Pro753_Gly754del;Thr756_Pro757delinsTrp;Leu759_Met767delinsHisProTrpAlaHisHisGlyGlyAsp;His769_Gly777delinsAspAsnValSerProSerSerGlyArg;Gly779_Glu781delinsCysTrpGlnArg]
CA2497030105
ENST00000557933.5:c.2256dup