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Canonical Allele Identifier: Get Identifier
Gene: CLCN5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121370.1:p.[Tyr473_Ser480delinsLeuArgThrValSerThrGlnAla;Gly483_Glu484delinsValAsnCys;Pro486Thr;Pro489Leu;Gly491_Gly493delinsTrpGluSerThr;Tyr495_Met498delinsGlnCysGlySer;Gln500del;Ala502del]
CA2695233689
NM_001127898.4:c.1418del