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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.[Leu465_Asn478delinsValTrpThrProProSerSerValIleMetArgThrValSer;Ser480delinsGlnAla;Gly483_Glu484delinsValAsnCys;Pro486Thr;Pro489Leu;Gly491_Val494delinsTrpGlu]
CA10413869
NM_001127898.4:c.1392_1393insGT