Allele Registry

Canonical Allele Identifier: PA916001009

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000417286

ClinVar Variation:

375829

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Gln686Glu	CA16602343 NM_001195798.2:c.2056C>G