Allele Registry

Canonical Allele Identifier: PA2825178735

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000850045

RCV003581734

ClinVar Variation:

689349

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Arg350Gln	CA305299648 NM_000527.5:c.1049G>A