Canonical Allele Identifier: PA2499227903
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1019140
ClinVar RCV Id: RCV001318534
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Gly483Asp
CA369645389
NM_000083.3:c.1448G>A