Allele Registry

Canonical Allele Identifier: PA916000535

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237135

RCV000791382

RCV001256078

RCV002287397

RCV002411086

RCV002461041

RCV003401206

ClinVar Variation:

251996

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Arg574His	CA036197 NM_001195798.2:c.1721G>A