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.Glu2516Asp
CA387518854
ENST00000682944.1:c.7548A>C
CA387518855
ENST00000682944.1:c.7548A>T