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
ENSP00000454071.1:p.Gln686Ter	ENST00000558518.6:c.[2055del;2056_2057ins... ENST00000558518.6:c.[2055del;2057A>T] ENST00000558518.6:c.[2055del;2057A>T;2059... ENST00000558518.6:c.[2055del;2057A>T;2059... ENST00000558518.6:c.2056C>T