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: SACS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005266395.1:p.[Thr4562_Met4567delinsLeuLeu;Val4569_Lys4579delinsLeu;Glu4581Ter]
CA2499940819
XM_005266338.2:c.13684del