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Canonical Allele Identifier: Get Identifier
Gene: CLCN5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011542190.1:p.[Leu465_Ser480delinsTrpThrProProSerSerValIleMetArgThrValSerThrGlnAla;Gly483_Glu484delinsValAsnCys;Pro486Thr;Pro489Leu;Gly491_Val494delinsTrpGlu]
CA2695233687
XM_011543888.1:c.1392del