Allele Registry

Canonical Allele Identifier: PA916000950

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238136

RCV000810496

RCV002418062

ClinVar Variation:

252173

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Gly675Ser	CA038175 NM_001195798.2:c.2023G>A