Canonical Allele Identifier: PA2499227925
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1256144
ClinVar RCV Id: RCV001663486
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Pro930His
CA4537787
NM_000083.3:c.2789C>A