Allele Registry

Canonical Allele Identifier: PA916000537

Gene: LDLR HGNC NCBI

ClinVar Allele:

181265

ClinVar RCV:

RCV000161998

RCV000238063

RCV000791378

RCV002399590

RCV003330518

ClinVar Variation:

183123

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Arg574Cys	CA023561 NM_001195798.2:c.1720C>T