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.Glu4016Asp
CA387507632
NM_001278055.2:c.12048A>T
CA387507633
NM_001278055.2:c.12048A>C