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
ENSP00000437639.1:p.[Leu384del;Arg386_Lys391delinsTyrSerGlyArgThrAla;Arg393_Gly402delinsSerGlnGlyProSerTrpTrpIleLeu;Tyr405_Trp406delinsAlaSerCys;Asp408_Trp409delinsGlyLeuThr;Thr411delinsGluLeu;Ala413Pro]
CA2499225322
ENST00000545707.5:c.1150_1151dup