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
ENSP00000385844.1:p.[Arg3575del;Ile3578_Leu3582delinsAsp;Lys3585_Leu3605del]
CA608985214
ENST00000402364.1:c.10723_10724del