This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.[Gln306_Leu311delinsHisProGlyProArgArg;Val313_Thr323delinsGlyCysGlyLeuAspProGlnGlnHisLeuLeu;Ser325_Leu327delinsArgLeuCysPro;Thr329_Ala333delinsHisCysLeuCysCys]
CA645509280
NM_001195800.2:c.909_910delinsGGACAT