Allele Registry

Canonical Allele Identifier: PA2826213812

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238136

RCV000810496

RCV002418062

ClinVar Variation:

252173

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Gly634Ser	CA038175 NM_001195799.2:c.1900G>A