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
ENSP00000453696.2:p.[Trp443_Ile451del;Ser453_Gln455del;Asp457_Asp466del;Val468_Ser470delinsCysPro;Asp472_Ile473delinsGlu]
CA2573050597
ENST00000559340.2:c.1329del