Allele Registry

Canonical Allele Identifier: PA916001437

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237176

RCV000771221

RCV001788071

RCV002460059

ClinVar Variation:

225402

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Arg74His	CA043240 NM_001195799.2:c.221G>A