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.[Glu443_Asp446delinsValArgIle;Asp448del;Cys450del;Gln452_Cys454del;Asn456_Asp472delinsArgIleProThrProAlaAlaSerSerAla]
CA2582474404
ENST00000252444.10:c.1327_1328insTCAGGATCCCGACG