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
ENSP00000437639.1:p.[Thr164_Trp178delinsHisProGlyGln;Asp180_Cys186delinsLeuGlnHis;Thr188_Asp193del]
CA2955303476
ENST00000545707.5:c.489dup