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.Phe1780Leu
CA387525943
ENST00000682944.1:c.5340C>G
CA387525944
ENST00000682944.1:c.5340C>A
CA387525948
ENST00000682944.1:c.5338T>C