Allele Registry

Canonical Allele Identifier: PA2826213531

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237135

RCV000791382

RCV001256078

RCV002287397

RCV002411086

RCV002461041

RCV003401206

ClinVar Variation:

251996

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Arg533His	CA036197 NM_001195799.2:c.1598G>A