Allele Registry

Canonical Allele Identifier: PA2499241781

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV001450031

RCV001508840

RCV002377745

RCV002557526

ClinVar Variation:

1120245

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Leu426Arg	CA404084869 NM_001195798.2:c.1277T>G