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
ENSP00000252444.6:p.[Arg115_Asp122delinsLysThrSerSerSerAlaLysThr;Lys124_Ile126delinsAsnAlaSerProThr;Tyr128_Gly134delinsGlySerAlaMetAlaAlaLeu;Glu137_Gly141delinsArgMetAlaLeuMet;Asp143_Glu144del]
CA2697556237
ENST00000252444.10:c.344del