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
XP_016876028.1:p.Glu2056Asp
CA387523733
XM_017020539.1:c.6168A>T
CA387523734
XM_017020539.1:c.6168A>C