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.Leu3002Phe	CA387515448 XM_024449337.1:c.9006A>T CA387515449 XM_024449337.1:c.9006A>C