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
ENSP00000440520.1:p.[Phe568_Asp575delinsSerProTrpProSerLeuArgThr;Val577Tyr;Trp579_Asp581delinsGlyGln;Ile583_Ile587delinsSerSerThrLysPro;Ala590_Asp597delinsValProThrAlaSerGlnValPro]
CA2499225324
ENST00000535915.5:c.1701del