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.Gln518Ter	ENST00000455727.6:c.[1551del;1552_1553ins... ENST00000455727.6:c.[1551del;1553A>T] ENST00000455727.6:c.[1551del;1553A>T;1555... ENST00000455727.6:c.[1551del;1553A>T;1555... ENST00000455727.6:c.1552C>T