Allele Registry

Canonical Allele Identifier: PA1139685389

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV001178947

ClinVar Variation:

920279

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Gly549Ala	CA404089091 NM_001195798.2:c.1646G>C