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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269092.1:p.[Cys412_Asp416delinsTrpPro;Ser418_Lys419delinsGly;Cys421_Glu434del;Pro436_Pro439delinsGln;Gly441_Val442delinsLeu]
CA2580617050
NM_001282163.2:c.1236_1237del