Allele Registry

Canonical Allele Identifier: PA645379299

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238353

RCV001377886

RCV002401945

RCV003897581

ClinVar Variation:

252003

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Trp577Ser	CA036295 NM_000527.5:c.1730G>C