Allele Registry

Canonical Allele Identifier: PA915999004

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000003938

RCV000776469

RCV000825593

RCV002051613

RCV002408448

ClinVar Variation:

3740

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Cys261Phe	CA023761 NM_001195798.2:c.782G>T