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
ENSP00000508403.1:p.Glu550Asp
CA387547379
ENST00000683489.1:c.1650G>T
CA387547381
ENST00000683489.1:c.1650G>C