Allele Registry

Canonical Allele Identifier: PA645380169

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238523

ClinVar Variation:

252188

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Cys681Trp	CA10585743 NM_000527.5:c.2043C>G