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Canonical Allele Identifier: Get Identifier
Gene: CLCN5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269092.1:p.[Tyr423_Ser430delinsLeuArgThrValSerThrGlnAla;Gly433_Glu434delinsValAsnCys;Pro436Thr;Pro439Leu;Gly441_Gly443delinsTrpGluSerThr;Tyr445_Met448delinsGlnCysGlySer;Gln450del;Ala452del]
CA2695233689
NM_001282163.2:c.1268del