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.Met1039Ile
CA387534624
NM_001278055.2:c.3117G>T
CA387534626
NM_001278055.2:c.3117G>C
CA387534628
NM_001278055.2:c.3117G>A