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
NP_001269092.1:p.Thr387Ser	CA413185640 NM_001282163.2:c.1159A>T CA413185643 NM_001282163.2:c.1160C>G