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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.[Tyr223_Ser230delinsLeuArgThrValSerThrGlnAla;Gly233_Glu234delinsValAsnCys;Pro236Thr;Pro239Leu;Gly241_Gly243delinsTrpGluSerThr;Tyr245_Met248delinsGlnCysGlySer;Gln250del;Ala252del]
CA2695233689
ENST00000642383.1:c.668del