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
ENSP00000390925.1:p.Trp193Cys
CA387547093
ENST00000423156.1:c.579G>T
CA387547094
ENST00000423156.1:c.579G>C