Allele Registry

Canonical Allele Identifier: PA915999479

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238007

ClinVar Variation:

251618

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Cys352Arg	CA10585268 NM_001195798.2:c.1054T>C