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: ARX HGNC NCBI

HGVS (amino-acid)	Transcript change
ENSP00000368332.4:p.Ala188Ter	ENST00000379044.4:c.[555del;558G>C;563C>T... ENST00000379044.4:c.[558del;561C=;563C>T;... ENST00000379044.4:c.[558del;563C>T;565C>A... ENST00000379044.4:c.[558_560del;562del;56... ENST00000379044.4:c.[558_560del;562del;56... ENST00000379044.4:c.[561del;563C>T;565C>A... ENST00000379044.4:c.562_563delinsTA