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
NP_055178.3:p.Cys2100Ser
CA387523462
NM_014363.6:c.6299G>C
CA387523466
NM_014363.6:c.6298T>A