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.[Asp313_Glu315delinsGluArgThr;Cys317_Ala320delinsLeuThrArgLys;Cys322_Arg323delinsAlaLeuTrp;Asp325_Cys329delinsProValAlaLeuThrAsn;Asp331_Gly337delinsSerAlaLeuMetGluThrAla;Arg339_Asp342delinsMetAlaAlaGlySerValThr]
CA2573050581
ENST00000252444.10:c.925_938dup