Allele Registry

Canonical Allele Identifier: PA645375749

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000211658

RCV000521830

RCV000820331

RCV002444847

ClinVar Variation:

226319

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Cys109Tyr	CA043125 NM_000527.5:c.326G>A