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_011533340.1:p.Phe2691Leu	CA6910830 XM_011535038.1:c.8073T>G CA387517557 XM_011535038.1:c.8073T>A CA387517562 XM_011535038.1:c.8071T>C