Allele Registry

Canonical Allele Identifier: PA2826216429

Gene: LDLR HGNC NCBI

ClinVar Variation Id: 251666

ClinVar RCV Id: RCV000238166

ClinVar Variation Id: 2109937

ClinVar RCV Id: RCV003042122

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Cys241Ser	CA10585305 NM_001195803.2:c.722G>C CA404083384 NM_001195803.2:c.721T>A