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
ENSP00000390925.2:p.Ser404Arg	CA387549772 ENST00000423156.2:c.1212T>G CA387549774 ENST00000423156.2:c.1212T>A CA387549784 ENST00000423156.2:c.1210A>C