Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000508262.1:p.His196Gln	CA387551878 ENST00000684163.1:c.588T>G CA387551879 ENST00000684163.1:c.588T>A