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.Val2389Leu	CA387519894 ENST00000382292.9:c.7165G>T CA387519895 ENST00000382292.9:c.7165G>C