Allele Registry

Canonical Allele Identifier: PA645379981

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237448

ClinVar Variation:

252127

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Asp651Tyr	CA10585693 NM_000527.5:c.1951G>T