Allele Registry

Canonical Allele Identifier: PA645377911

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238495

RCV000454858

RCV001191369

ClinVar Variation:

251603

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Asp342Tyr	CA10585255 NM_000527.5:c.1024G>T