Allele Registry

Canonical Allele Identifier: PA2826212695

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000509206

ClinVar Variation:

441196

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Cys248Tyr	CA404080788 NM_001195799.2:c.743G>A