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.Leu3331Phe
CA387512224
NM_001278055.2:c.9993G>C
CA387512225
NM_001278055.2:c.9993G>T