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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_Ser230delinsTrpThrProProSerSerValIleMetArgThrValSerThrGlnAla;Gly233_Glu234delinsValAsnCys;Pro236Thr;Pro239Leu;Gly241_Val244delinsTrpGlu]
CA2695233687
ENST00000642383.1:c.642del