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
ENSP00000453557.1:p.[Cys358_Cys364del;Gln366_Cys368del;Asn370_Pro387delinsArgIleProThrProAlaAlaSerSerAla]
CA2499225316
ENST00000557933.5:c.1070_1071dup