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
ENSP00000507624.1:p.Glu1750Asp
CA387526171
ENST00000683270.1:c.5250A>T
CA387526173
ENST00000683270.1:c.5250A>C