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
ENSP00000371735.3:p.Val1189Leu
CA387534580
ENST00000382298.7:c.3565G>C
CA387534584
ENST00000382298.7:c.3565G>T