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.Tyr2591del
CA387518273
NM_014363.6:c.7773C>G
CA387518274
NM_014363.6:c.7773C>A