Allele Registry

Canonical Allele Identifier: PA2826214752

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237613

RCV002321916

RCV002518484

RCV003736671

ClinVar Variation:

251681

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Cys209Tyr	CA10585320 NM_001195800.2:c.626G>A