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
ENSP00000507173.1:p.Trp764Arg
CA387539756
ENST00000682944.1:c.2290T>C
CA387539760
ENST00000682944.1:c.2290T>A