Canonical Allele Identifier: PA2825662477
Gene: CLCN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1953479
ClinVar RCV Id: RCV002700348
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121370.1:p.Glu474Asp
CA413186127
NM_001127898.4:c.1422G>T
CA413186129
NM_001127898.4:c.1422G>C