Canonical Allele Identifier: PA2499227901
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1001036
ClinVar RCV Id: RCV001297259
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Ala415Thr
CA369643576
NM_000083.3:c.1243G>A