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
ENSP00000440520.1:p.[Cys63_Ser64delinsSerPro;Lys66_Glu72delinsArgArgAlaProArgThrSer;Arg74_Asp77delinsAlaAlaThrMet;Lys79_Asp92delinsSerAlaSerLeuGlySerSerSerValThrGlnThrGlyThr]
CA2497030095
ENST00000535915.5:c.188del