Allele Registry

Canonical Allele Identifier: PA645380373

Gene: LDLR HGNC NCBI

ClinVar Allele:

362725

ClinVar RCV:

RCV000417355

RCV001177575

ClinVar Variation:

375833

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Arg709Gly	CA16602347 NM_000527.5:c.2125A>G