Allele Registry

Canonical Allele Identifier: PA2826216202

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237850

RCV003456385

RCV004020954

ClinVar Variation:

251510

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Arg173Gly	CA030068 NM_001195803.2:c.517A>G