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
ENSP00000252444.6:p.Gln772Ter	ENST00000252444.10:c.[2313del;2314_2315in... ENST00000252444.10:c.[2313del;2315A>T] ENST00000252444.10:c.[2313del;2315A>T;231... ENST00000252444.10:c.[2313del;2315A>T;231... ENST00000252444.10:c.2314C>T