Allele Registry

Canonical Allele Identifier: PA2826215441

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000417315

RCV001764352

RCV002411283

RCV003226290

ClinVar Variation:

375824

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Val450Gly	CA16602338 NM_001195800.2:c.1349T>G