Allele Registry

Canonical Allele Identifier: PA645377553

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238400

ClinVar Variation:

251494

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Ile290Ser	CA10585166 NM_000527.5:c.869T>G