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.Leu2990Phe
CA387515448
XM_017020539.1:c.8970A>T
CA387515449
XM_017020539.1:c.8970A>C