Allele Registry

Canonical Allele Identifier: PA2826213506

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000417317

RCV001193791

RCV001316970

ClinVar Variation:

375819

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Gly524Asp	CA16602333 NM_001195799.2:c.1571G>A