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.Ser2530Arg
CA387518696
NM_014363.6:c.7590C>G
CA387518697
NM_014363.6:c.7590C>A
CA387518702
NM_014363.6:c.7588A>C