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.Phe3330Leu	CA387513271 XM_005266338.2:c.9990T>G CA387513272 XM_005266338.2:c.9990T>A CA387513277 XM_005266338.2:c.9988T>C