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
ENSP00000507780.1:p.Asp383Glu
CA387550022
ENST00000683367.1:c.1149T>G
CA387550024
ENST00000683367.1:c.1149T>A