Allele Registry

Canonical Allele Identifier: PA2826212048

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237470

RCV000771548

RCV001589203

RCV002450754

ClinVar Variation:

252360

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Val857Met	CA041346 NM_001195798.2:c.2569G>A