Canonical Allele Identifier: PA121686
Gene: CLCN5 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001269092.1:p.Trp363Ter
NM_001282163.2:c.1088G>A

NM_001282163.2:c.1089G>A