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
ENSP00000453346.1:p.[Asp227_Val233delinsAlaValTrpThrAlaArgLysThr;Thr235_Arg237delinsLeuTrpPro;Asp239_Cys243delinsValAlaLeuThrAsn;Asp245_Gly251delinsSerAlaLeuMetGluThrAla;Arg253_Arg257delinsMetAlaAlaGlySerValThrGly]
CA16620737
ENST00000558013.5:c.680_682delinsCGGTATGGACTGCA