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.Phe4561Leu
CA387504772
ENST00000682944.1:c.13683C>G
CA387504773
ENST00000682944.1:c.13683C>A
CA387504778
ENST00000682944.1:c.13681T>C