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
XP_005266395.1:p.Val1057Leu	CA387536691 XM_005266338.2:c.3169G>T CA387536692 XM_005266338.2:c.3169G>C