Allele Registry

Canonical Allele Identifier: PA915999726

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238296

ClinVar Variation:

251704

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Gly396Ser	CA10585341 NM_001195798.2:c.1186G>A