Allele Registry

Canonical Allele Identifier: PA2826216367

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000211597

RCV001183695

RCV002259322

RCV002399776

ClinVar Variation:

226343

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Arg223Pro	CA10576296 NM_001195803.2:c.668G>C