Allele Registry

Canonical Allele Identifier: PA2826213937

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000845552

RCV003478524

ClinVar Variation:

684870

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Gln681Arg	CA404094825 NM_001195799.2:c.2042A>G