Canonical Allele Identifier: PA2741851273
Gene: CLCN7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2745665
ClinVar RCV Id: RCV003568152
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278.1:p.Ala752Thr
CA394185417
NM_001287.6:c.2254G>A