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_011533341.1:p.Lys1754Asn	CA387526245 XM_011535039.2:c.5262G>T CA387526246 XM_011535039.2:c.5262G>C