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.[Asp227_Val233delinsThrValTrpThrAlaArgLysThr;Thr235_Arg237delinsLeuTrpPro;Asp239_Cys243delinsValAlaLeuThrAsn;Asp245_Gly251delinsSerAlaLeuMetGluThrAla;Arg253_Arg257delinsMetAlaAlaGlySerValThrGly]
CA2695223212
ENST00000559340.2:c.679_682delinsACGGTATGGACTGCA