Allele Registry

Canonical Allele Identifier: PA2826215287

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000417317

RCV001193791

RCV001316970

ClinVar Variation:

375819

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Gly397Asp	CA16602333 NM_001195800.2:c.1190G>A