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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.[Leu415_Asp416del;Ser418_Lys419delinsGly;Cys421_Glu434del;Pro436_Pro439delinsGln;Gly441_Val444delinsLeu]
CA2832528823
NM_001282163.2:c.1242dup