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: CLCN7 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000372193.4:p.Val748Leu	CA394185463 ENST00000382745.9:c.2242G>T CA394185464 ENST00000382745.9:c.2242G>C