Allele Registry

Canonical Allele Identifier: PA100775

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000161994

RCV000238217

RCV000775072

RCV002399589

RCV004017445

ClinVar Variation:

183120

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Pro526Ser	CA023533 NM_000527.5:c.1576C>T