Allele Registry

Canonical Allele Identifier: PA915999445

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000161977

RCV000211596

RCV000587327

RCV000844735

RCV002381528

ClinVar Variation:

183106

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Gly343Ser	CA023406 NM_001195798.2:c.1027G>A