Allele Registry

Canonical Allele Identifier: PA915999528

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000627169

RCV000775610

RCV001199891

RCV002420657

ClinVar Variation:

523715

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Asp360His	CA031936 NM_001195798.2:c.1078G>C