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Canonical Allele Identifier: Get Identifier
Gene: CLCN5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011542190.1:p.[Phe459_Ser480delinsLeuMetThrValAlaPheTrpThrProProSerSerValIleMetArgThrValSerThrGlnAla;Gly483_Arg488delinsValAsnCysLeuThr]
CA658799745
XM_011543888.1:c.1374del