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
ENSP00000507057.1:p.Thr507Ser
CA387548007
ENST00000684497.1:c.1520C>G
CA387548013
ENST00000684497.1:c.1519A>T