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
ENSP00000440520.1:p.[Glu72_Asp77del;Lys79_Ser82delinsValSerLeuPro;Gln84_Phe85delinsTrpGlu;Cys87_Asp88delinsHisLeu;Asp90_Cys93delinsAlaValArg;Asp95_Ser101del]
CA9204948
ENST00000535915.5:c.214dup