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
ENSP00000252444.6:p.[Ile441_Cys450delinsAlaLysIleSerMet;Gln452_Cys454del;Asn456_Phe469delinsArgIleProThrProAlaAlaSerSerAla]
CA10585266
ENST00000252444.10:c.1311_1318dup