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
NP_001182729.1:p.[Leu343del;Arg345_Lys350delinsTyrSerGlyArgThrAla;Arg352_Gly361delinsSerGlnGlyProSerTrpTrpIleLeu;Tyr364_Trp365delinsAlaSerCys;Asp367_Trp368delinsGlyLeuThr;Thr370delinsGluLeu;Ala372Pro]
CA2499225322
NM_001195800.2:c.1027_1028dup