Canonical Allele Identifier: PA2580140463
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2048735
ClinVar RCV Id: RCV002909346
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Ile137Val
CA413502262
NM_001097642.3:c.409A>G