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.[Thr598_Met599delinsAsnVal;His601_Lys615del;Val619Gly;Ala621_Ile628delinsArgCysTrpGlnArgLys]
CA10585817
ENST00000455727.6:c.1793_1794del