Allele Registry

Canonical Allele Identifier: PA645378449

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238156

RCV001191368

RCV004017555

ClinVar Variation:

251784

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Ile441Met	CA10585401 NM_000527.5:c.1323C>G