Allele Registry

This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.

Canonical Allele Identifier: PA100715

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238417

RCV000255176

RCV000586642

RCV002051660

RCV002345455

ClinVar Variation:

161267

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Leu401Val	CA023432 NM_000527.5:c.1201C>G