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_011533341.1:p.Leu2962Phe
CA387515691
XM_011535039.2:c.8886A>T
CA387515692
XM_011535039.2:c.8886A>C