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Canonical Allele Identifier: Get Identifier
Gene: CLCN5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016884746.1:p.[Tyr477_Ser484delinsLeuArgThrValSerThrGlnAla;Gly487_Glu488delinsValAsnCys;Pro490Thr;Pro493Leu;Gly495_Gly497delinsTrpGluSerThr;Tyr499_Met502delinsGlnCysGlySer;Gln504del;Ala506del]
CA2695233689
XM_017029257.1:c.1430del