Allele Registry

Canonical Allele Identifier: PA2826212523

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237530

RCV000781498

RCV000985770

RCV002365242

ClinVar Variation:

251393

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Glu187Gln	CA044313 NM_001195799.2:c.559G>C