Allele Registry

Canonical Allele Identifier: PA645379522

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237727

ClinVar Variation:

252029

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Arg595Leu	CA10585609 NM_000527.5:c.1784G>T