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
ENSP00000507173.1:p.Leu2413Phe
CA387519798
ENST00000682944.1:c.7239G>T
CA387519799
ENST00000682944.1:c.7239G>C