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
ENSP00000507780.1:p.[Asn393_Val395delinsArgGlnCys;Gly397_Leu404delinsTrpAlaArg;Ser406_Pro422delinsGln]
CA2528148334
ENST00000683367.1:c.1177_1178insG