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.[Gln561_His562delinsSer;Thr564_Arg566delinsGln;Val568del;Thr571_Leu574delinsLeuPheProThr;Gly576_Pro579delinsProGlyCysLeu;Leu581_Ser590delinsProProLeuGlySerProArgTrpArg]
CA1139768693
ENST00000545707.5:c.1680del