Allele Registry

Canonical Allele Identifier: PA916000941

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000030131

RCV000313287

RCV000775084

RCV002415393

ClinVar Variation:

3689

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Cys667Tyr	CA023621 NM_001195798.2:c.2000G>A