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: CLCN5 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000496632.1:p.Val320Leu	CA413185340 ENST00000642885.1:c.958G>C CA413185341 ENST00000642885.1:c.958G>T