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.Leu4394Phe
CA387504848
NM_001278055.2:c.13182G>T
CA387504849
NM_001278055.2:c.13182G>C