Allele Registry

Canonical Allele Identifier: PA2826212545

Gene: LDLR HGNC NCBI

ClinVar Allele:

362690

ClinVar RCV:

RCV000417334

RCV000775604

RCV003477911

ClinVar Variation:

375798

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Arg196His	CA044568 NM_001195799.2:c.587G>A