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
ENSP00000508262.1:p.[Lys178_Gly185del;Phe187_Gly188delinsMet;Gly190_Asp207delinsLeu]
CA2580086882
ENST00000684163.1:c.533del