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
ENSP00000453346.1:p.Lys581Ter	ENST00000558013.5:c.[1737del;1739C>T;1742... ENST00000558013.5:c.[1737del;1739C>T;1742... ENST00000558013.5:c.1741A>T