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
ENSP00000440520.1:p.Lys540Ter	ENST00000535915.5:c.[1614del;1616C>T;1619... ENST00000535915.5:c.[1614del;1616C>T;1619... ENST00000535915.5:c.1618A>T