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.Leu2102Phe	CA387523446 ENST00000382292.9:c.6306G>T CA387523447 ENST00000382292.9:c.6306G>C