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
ENSP00000453557.1:p.[Asp139_Glu140delinsArgProPro;Ser142Arg;Cys143_Pro144insSer;Leu146_Gly149delinsValPro;Phe153_Asn156del;Ser158Ala;Cys160_Ile161delinsAlaPro;Gln163_Ala166delinsAlaSerProSer;Asp168_Asn169delinsGlyProAlaThr]
CA2582473459
ENST00000557933.5:c.414_417del