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
XP_011526312.1:p.[Arg744del;Val746_Thr749delinsThrCys;Arg751_Leu752insHis;Gly754Ala;Thr756_Pro757delinsTrp;Leu759_Met767delinsHisProTrpAlaHisHisGlyGlyAsp;His769_Gln770delinsAspAsn;Leu772_Leu773delinsSerProSerAlaPro]
CA2697556242
XM_011528010.2:c.2230dup