Allele Registry

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

HGVS (amino-acid)	Transcript change
ENSP00000437639.1:p.Lys454Ter	ENST00000545707.5:c.[1356del;1358C>T;1361... ENST00000545707.5:c.[1356del;1358C>T;1361... ENST00000545707.5:c.1360A>T