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
ENSP00000508121.1:p.Val394Leu
CA387549919
ENST00000684325.1:c.1180G>T
CA387549923
ENST00000684325.1:c.1180G>C