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
ENSP00000371729.3:p.His3667Gln	CA387510958 ENST00000382292.9:c.11001T>G CA387510959 ENST00000382292.9:c.11001T>A