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.[Arg568_Gln571delinsIleGlyAlaGly;Tyr573_Glu576del;Asp578_Asn580del;Glu582_Tyr583delinsArg;Lys585_Ile598del]
CA2622331274
ENST00000684163.1:c.1703_1704del