Allele Registry

Canonical Allele Identifier: PA915999863

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238315

ClinVar Variation:

251753

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Arg416Pro	CA10585375 NM_001195798.2:c.1247G>C