Allele Registry

Canonical Allele Identifier: PA645375939

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000417308

ClinVar Variation:

375783

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Cys128Tyr	CA16602299 NM_000527.5:c.383G>A