Allele Registry

Canonical Allele Identifier: PA915999635

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237613

RCV002321916

RCV002518484

RCV003736671

ClinVar Variation:

251681

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Cys377Tyr	CA10585320 NM_001195798.2:c.1130G>A