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Canonical Allele Identifier: Get Identifier
Gene: CLCN5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000304257.2:p.[Leu395_Asn408delinsValTrpThrProProSerSerValIleMetArgThrValSer;Ser410delinsGlnAla;Gly413_Glu414delinsValAsnCys;Pro416Thr;Pro419Leu;Gly421_Val424delinsTrpGlu]
CA10413869
ENST00000307367.2:c.1182_1183insGT