Canonical Allele Identifier: PA2499227900
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1190716
ClinVar RCV Id: RCV001551532 RCV002221631 RCV003771688
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Ala415Pro
CA168214027
NM_000083.3:c.1243G>C