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_001182727.1:p.[Leu479_Ala480delinsPro;Trp483_Leu495delinsProGlnGlnHisLeuLeuAspArgLeuCysPro;Thr497_Lys504delinsHisCysLeuCysCysGlyTyrGln;Val506_Phe512delinsArgGluGluGluAsnValIleGln]
CA2497030064
NM_001195798.2:c.1434_1448delinsTCCAGTA