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
ENSP00000453696.2:p.[Asp118Val;Lys120_Phe126delinsSerAlaSerLeuGlySerSerSer;Cys128_Glu140delinsThrGlnThrGlyThrAlaTrpThrAlaGlnThrArgProPro;Ser142Arg;Pro144_Thr147delinsSerPro]
CA10584868
ENST00000559340.2:c.353del