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
XP_016876028.1:p.Phe2343Leu
CA387520184
XM_017020539.1:c.7029C>G
CA387520185
XM_017020539.1:c.7029C>A
CA387520190
XM_017020539.1:c.7027T>C