Allele Registry

Canonical Allele Identifier: PA2826215605

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238523

ClinVar Variation:

252188

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Cys513Trp	CA10585743 NM_001195800.2:c.1539C>G