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.[Arg4325del;Ile4328_Leu4332delinsAsp;Lys4335_Leu4355del]
CA608985214
NM_014363.6:c.12973_12974del