Allele Registry

Canonical Allele Identifier: PA2826215947

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237470

RCV000771548

RCV001589203

RCV002450754

ClinVar Variation:

252360

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Val691Met	CA041346 NM_001195800.2:c.2071G>A