Allele Registry

Canonical Allele Identifier: PA916000960

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238301

RCV003581638

ClinVar Variation:

252178

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Cys677Tyr	CA10585732 NM_001195798.2:c.2030G>A