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_055178.3:p.Thr1816Ser
CA387525644
NM_014363.6:c.5447C>G
CA387525647
NM_014363.6:c.5446A>T