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.Phe2199Leu
CA387520184
NM_001278055.2:c.6597C>G
CA387520185
NM_001278055.2:c.6597C>A
CA387520190
NM_001278055.2:c.6595T>C