Allele Registry

Canonical Allele Identifier: PA645378487

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238264

ClinVar Variation:

251790

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Trp443Ser	CA10585407 NM_000527.5:c.1328G>C