Allele Registry

Canonical Allele Identifier: PA916000425

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237535

RCV000238474

RCV001321570

RCV002519850

RCV003441825

ClinVar Variation:

251942

251943

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Gly545Arg	CA10585534 NM_001195798.2:c.1633G>A CA10585535 NM_001195798.2:c.1633G>C