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Canonical Allele Identifier: Get Identifier
Gene: CLCN5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000075.1:p.[Tyr403_Ser410delinsLeuArgThrValSerThrGlnAla;Gly413_Glu414delinsValAsnCys;Pro416Thr;Pro419Leu;Gly421_Gly423delinsTrpGluSerThr;Tyr425_Met428delinsGlnCysGlySer;Gln430del;Ala432del]
CA2695233689
NM_000084.5:c.1208del