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
NP_001264984.1:p.Glu3230Asp
CA387512903
NM_001278055.2:c.9690A>C
CA387512904
NM_001278055.2:c.9690A>T