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Canonical Allele Identifier: Get Identifier
Gene: CLCN5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000496353.1:p.[Leu215_Asp216del;Ser218_Lys219delinsGly;Cys221_Glu234del;Pro236_Pro239delinsGln;Gly241_Val244delinsLeu]
CA2832528823
ENST00000642383.1:c.642dup