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.Asp2819Glu
CA387516652
ENST00000682944.1:c.8457C>G
CA387516653
ENST00000682944.1:c.8457C>A