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.Leu3289Phe	CA387513537 XM_024449337.1:c.9867G>T CA387513538 XM_024449337.1:c.9867G>C