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
ENSP00000453557.1:p.[Met855_Thr868delinsIleGluValHisIleCysHisAsnGlnAspGlyTyrSerTyr;Arg870_Asp871delinsSer;Trp873_Ser874delinsGlnMet;Trp876_Leu884delinsSerLeuGluAspAspValAla]
CA2580096346
ENST00000557933.5:c.2564dup