Canonical Allele Identifier: PA340978
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10450
ClinVar RCV Id: RCV000011195 RCV000344288 RCV000467010 RCV001271691 RCV001711068 RCV002362577
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Phe235Cys
CA340976
NM_001097642.3:c.704T>G