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
ENSP00000397829.2:p.Lys413Ter	ENST00000455727.6:c.[1233del;1235C>T;1238... ENST00000455727.6:c.[1233del;1235C>T;1238... ENST00000455727.6:c.1237A>T