Allele Registry

Canonical Allele Identifier: PA645378100

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238254

RCV001854900

ClinVar Variation:

251674

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Gly373Val	CA10585313 NM_000527.5:c.1118G>T