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.[Phe389_Ser410delinsLeuMetThrValAlaPheTrpThrProProSerSerValIleMetArgThrValSerThrGlnAla;Gly413_Arg418delinsValAsnCysLeuThr]
CA658799745
NM_000084.5:c.1164del