Canonical Allele Identifier: PA2580140350
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1807290
ClinVar RCV Id: RCV002475247
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Gly59Asp
CA413501284
NM_001097642.3:c.176G>A