Allele Registry

Canonical Allele Identifier: PA645376496

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238173

RCV001068108

RCV002356330

ClinVar Variation:

251309

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Cys197Phe	CA044039 NM_000527.5:c.590G>T