Allele Registry

Canonical Allele Identifier: PA645380215

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000417286

ClinVar Variation:

375829

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Gln686Glu	CA16602343 NM_000527.5:c.2056C>G