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.Met2248Leu	CA387520894 XM_024449337.1:c.6742A>T CA387520895 XM_024449337.1:c.6742A>C