Allele Registry

Canonical Allele Identifier: PA2826214696

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000497231

ClinVar Variation:

431519

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Glu189Gln	CA404083133 NM_001195800.2:c.565G>C