Allele Registry

Canonical Allele Identifier: PA2826215573

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238269

RCV000821494

RCV001812663

ClinVar Variation:

252163

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Cys499Arg	CA10585722 NM_001195800.2:c.1495T>C