Allele Registry

Canonical Allele Identifier: PA916000340

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238555

RCV003298317

RCV003581628

ClinVar Variation:

251902

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Asp525Val	CA10585507 NM_001195798.2:c.1574A>T