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
ENSP00000371729.3:p.Glu2598Asp
CA387518222
ENST00000382292.9:c.7794A>T
CA387518223
ENST00000382292.9:c.7794A>C