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Canonical Allele Identifier: Get Identifier
Gene: CLCN5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000365259.3:p.[Phe459_Ser480delinsLeuMetThrValAlaPheTrpThrProProSerSerValIleMetArgThrValSerThrGlnAla;Gly483_Arg488delinsValAsnCysLeuThr]
CA658799745
ENST00000376091.8:c.1374del