Allele Registry

Canonical Allele Identifier: PA2826212743

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000508931

RCV002376948

ClinVar Variation:

440612

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Asp263His	CA404081038 NM_001195799.2:c.787G>C