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Canonical Allele Identifier: Get Identifier
Gene: CLCN5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000496353.1:p.[Phe209_Ser230delinsLeuMetThrValAlaPheTrpThrProProSerSerValIleMetArgThrValSerThrGlnAla;Gly233_Arg238delinsValAsnCysLeuThr]
CA658799745
ENST00000642383.1:c.624del