Canonical Allele Identifier: PA121687
Gene: CLCN5 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001121370.1:p.Trp413Ter
NM_001127898.4:c.1238G>A

NM_001127898.4:c.1239G>A