Allele Registry

Canonical Allele Identifier: PA2826216365

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000850045

RCV003581734

ClinVar Variation:

689349

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Arg223Gln	CA305299648 NM_001195803.2:c.668G>A