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.Ser4533Arg
CA387504902
NM_014363.6:c.13599T>G
CA387504903
NM_014363.6:c.13599T>A
CA387504907
NM_014363.6:c.13597A>C