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_001264984.1:p.Asp4045Glu
CA387507433
NM_001278055.2:c.12135T>G
CA387507434
NM_001278055.2:c.12135T>A