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Canonical Allele Identifier: Get Identifier
Gene: CLCN5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121371.1:p.[Cys471_Ser480delinsValIleMetArgThrValSerThrGlnAla;Gly483_Glu484delinsValAsnCys;Pro486Thr;Pro489Leu;Gly491_Gln500delinsTrpGluSerThrValGlnCysGly]
CA2695233688
NM_001127899.4:c.1410del