Allele Registry

Canonical Allele Identifier: PA2826217078

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000162002

RCV000211609

RCV001034677

ClinVar Variation:

183126

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Arg468Gln	CA023585 NM_001195803.2:c.1403G>A