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
ENSP00000507624.1:p.Phe764Leu
CA387539532
ENST00000683270.1:c.2292T>G
CA387539534
ENST00000683270.1:c.2292T>A
CA387539546
ENST00000683270.1:c.2290T>C