Allele Registry

Canonical Allele Identifier: PA645378686

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237631

RCV000508695

RCV001034671

ClinVar Variation:

251850

440646

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Trp483Cys	CA10585459 NM_000527.5:c.1449G>T CA404086103 NM_000527.5:c.1449G>C