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)	Matching Registered Transcripts
NP_000518.1:p.Asp482Glu	CA404086079 NM_000527.5:c.1446C>A CA404086082 NM_000527.5:c.1446C>G