Allele Registry

Canonical Allele Identifier: PA916000312

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238520

RCV001284640

RCV003284137

RCV003741255

ClinVar Variation:

251900

993226

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Val523Leu	CA034835 NM_001195798.2:c.1567G>C CA10585504 NM_001195798.2:c.1567G>T