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.[Cys104del;Lys107_Glu113delinsArgArgAlaProArgThrSer;Arg115_Asp118delinsAlaAlaThrMet;Lys120_Cys134delinsSerAlaSerLeuGlySerSerSerValThrGlnThrGlyThrAla]
CA10584838
ENST00000557933.5:c.310_313del