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
ENSP00000507223.1:p.Cys567Ser
CA387547133
ENST00000683680.1:c.1700G>C
CA387547141
ENST00000683680.1:c.1699T>A