Allele Registry

Canonical Allele Identifier: PA2826216948

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV001178947

ClinVar Variation:

920279

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Gly422Ala	CA404089091 NM_001195803.2:c.1265G>C