Allele Registry

Canonical Allele Identifier: PA2826214666

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000850045

RCV003581734

ClinVar Variation:

689349

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Arg182Gln	CA305299648 NM_001195800.2:c.545G>A