Allele Registry

Canonical Allele Identifier: PA916000458

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238388

RCV000775074

ClinVar Variation:

251949

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Leu547Pro	CA10585539 NM_001195798.2:c.1640T>C