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
ENSP00000453513.2:p.[Gln699_His700delinsSer;Thr702_Arg704delinsGln;Val706del;Thr709_Leu712delinsLeuPheProThr;Gly714_Pro717delinsProGlyCysLeu;Leu719_Ser728delinsProProLeuGlySerProArgTrpArg]
CA1139768693
ENST00000560467.2:c.2094del