Allele Registry

Canonical Allele Identifier: PA915998615

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238173

RCV001068108

RCV002356330

ClinVar Variation:

251309

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Cys197Phe	CA044039 NM_001195798.2:c.590G>T