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.Asp2192Glu
CA387520236
NM_001278055.2:c.6576T>G
CA387520237
NM_001278055.2:c.6576T>A