Allele Registry

Canonical Allele Identifier: PA645378332

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000417351

ClinVar Variation:

375812

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Tyr419Cys	CA16602327 NM_000527.5:c.1256A>G