Allele Registry

Canonical Allele Identifier: PA645380306

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237371

RCV003581642

ClinVar Variation:

252220

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Asp700Gly	CA10585773 NM_000527.5:c.2099A>G