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.Asn2147Lys	CA387521905 XM_011535039.2:c.6441T>G CA387521907 XM_011535039.2:c.6441T>A