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
ENSP00000453513.2:p.[Glu101_Cys104delinsAspLysAlaVal;Lys107_Glu113delinsArgArgAlaProArgThrSer;Arg115_Asp118delinsAlaAlaThrMet;Lys120_Ile122delinsSerAla;Arg124_Asp131delinsLeuGlySerSerSerValThrGln]
CA042799
ENST00000560467.2:c.303del