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
ENSP00000385844.1:p.Glu2394Asp
CA387514448
ENST00000402364.1:c.7182A>T
CA387514449
ENST00000402364.1:c.7182A>C