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_000075.1:p.[Leu395_Asp396del;Ser398_Lys399delinsGly;Cys401_Glu414del;Pro416_Pro419delinsGln;Gly421_Val424delinsLeu]
CA2832528823
NM_000084.5:c.1182dup