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.[Cys444_Cys450del;Gln452_Cys454del;Asn456_Pro473delinsArgIleProThrProAlaAlaSerSerAla]
CA2499225316
ENST00000252444.10:c.1328_1329dup