Allele Registry

Canonical Allele Identifier: PA645378448

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238500

ClinVar Variation:

251782

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Ile441Asn	CA10585399 NM_000527.5:c.1322T>A