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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_Asn478delinsSerLeuMetThrValAlaPheTrpThrProProSerSerValIleMetArgThrValSer;Ser480_Gly482delinsGlnAlaLys;Glu484_Arg488delinsValAsnCysLeuThr]
CA2695233686
XM_011543888.1:c.1374_1375insAG