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Canonical Allele Identifier: Get Identifier
Gene: CLCN5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000304257.2:p.[Phe389_Ser410delinsLeuMetThrValAlaPheTrpThrProProSerSerValIleMetArgThrValSerThrGlnAla;Gly413_Arg418delinsValAsnCysLeuThr]
CA658799745
ENST00000307367.2:c.1164del