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.Glu3000Asp
CA387514425
NM_001278055.2:c.9000G>T
CA387514426
NM_001278055.2:c.9000G>C