Allele Registry

Canonical Allele Identifier: PA916000937

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238269

RCV000821494

RCV001812663

ClinVar Variation:

252163

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Cys667Arg	CA10585722 NM_001195798.2:c.1999T>C