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
ENSP00000390925.1:p.Lys39Asn	CA387549579 ENST00000423156.1:c.117A>C CA387549582 ENST00000423156.1:c.117A>T