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
ENSP00000508121.1:p.Glu382Asp
CA387550083
ENST00000684325.1:c.1146G>T
CA387550084
ENST00000684325.1:c.1146G>C