Allele Registry

Canonical Allele Identifier: PA2826213798

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000030131

RCV000313287

RCV000775084

RCV002415393

ClinVar Variation:

3689

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Cys626Tyr	CA023621 NM_001195799.2:c.1877G>A