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
ENSP00000371735.3:p.His3249Gln	CA387513743 ENST00000382298.7:c.9747T>G CA387513744 ENST00000382298.7:c.9747T>A