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
ENSP00000397829.2:p.[Cys116_Asn129delinsGlnValGlnValSerGlnArgArg;Ala131_Trp137delinsHisHisProGlyGln;Asp139_Glu144delinsLeuGlnHisGly]
CA645509270
ENST00000455727.6:c.335_344dup