Allele Registry

Canonical Allele Identifier: PA645379191

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000417317

RCV001193791

RCV001316970

ClinVar Variation:

375819

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Gly565Asp	CA16602333 NM_000527.5:c.1694G>A