Allele Registry

Canonical Allele Identifier: PA916000229

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238035

RCV000587515

RCV001284639

RCV002392743

ClinVar Variation:

251864

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Asp492His	CA10585474 NM_001195798.2:c.1474G>C