Allele Registry

Canonical Allele Identifier: PA916001110

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000211696

ClinVar Variation:

226386

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Glu714Gln	CA10576329 NM_001195798.2:c.2140G>C