Allele Registry

Canonical Allele Identifier: PA915998686

Gene: LDLR HGNC NCBI

ClinVar Variation Id: 251346

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Cys216Tyr	CA10585035 NM_001195798.2:c.647G>A