Allele Registry

Canonical Allele Identifier: PA915999348

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238216

RCV001181337

RCV002051675

RCV003372619

RCV003477564

ClinVar Variation:

161282

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Gly323Ser	CA023798 NM_001195798.2:c.967G>A