Allele Registry

Canonical Allele Identifier: PA306133

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237811

RCV000589041

RCV000826174

RCV001283997

RCV002354478

ClinVar Variation:

200919

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Cys197Tyr	CA023730 NM_000527.5:c.590G>A