Allele Registry

Canonical Allele Identifier: PA2825180221

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV003742418

ClinVar Variation:

2872499

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Ser580Thr	CA404089697 NM_000527.5:c.1738T>A