Allele Registry

Canonical Allele Identifier: PA2826214705

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000627169

RCV000775610

RCV001199891

RCV002420657

ClinVar Variation:

523715

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Asp192His	CA031936 NM_001195800.2:c.574G>C