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Canonical Allele Identifier: Get Identifier
Gene: CLCN5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016884747.1:p.[Phe463_Asn482delinsSerLeuMetThrValAlaPheTrpThrProProSerSerValIleMetArgThrValSer;Ser484_Gly486delinsGlnAlaLys;Glu488_Arg492delinsValAsnCysLeuThr]
CA2695233686
XM_017029258.1:c.1386_1387insAG