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
ENSP00000371729.3:p.Met518Ile	CA387547853 ENST00000382292.9:c.1554G>T CA387547856 ENST00000382292.9:c.1554G>A CA387547857 ENST00000382292.9:c.1554G>C