Allele Registry

Canonical Allele Identifier: PA915999939

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000003882

RCV000775062

RCV000786355

RCV002381239

RCV004017225

ClinVar Variation:

3694

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Val429Met	CA023443 NM_001195798.2:c.1285G>A