Allele Registry

Canonical Allele Identifier: PA2499241804

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV001351643

ClinVar Variation:

1047002

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Thr721Ala	CA404094808 NM_001195798.2:c.2161A>G