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_024305105.1:p.Val2490Leu	CA387519136 XM_024449337.1:c.7468G>T CA387519137 XM_024449337.1:c.7468G>C