ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
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)
Transcript change
NP_055178.3:p.Met3307Ile
NM_014363.6:c.9921G>A
NM_014363.6:c.9921G>C
NM_014363.6:c.9921G>T