Allele Registry

Canonical Allele Identifier: PA645379905

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238489

RCV002411105

RCV003581635

ClinVar Variation:

252109

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Gly636Ser	CA037376 NM_000527.5:c.1906G>A