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
ENSP00000453513.2:p.[Glu332Ala;Gly334_Cys337delinsTrpLeu;Cys339_Asp346delinsVal;His348_Ala354del;Gly356_Leu361del]
CA2695228151
ENST00000560467.2:c.994_995insC