Canonical Allele Identifier: PA337774
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 215983
ClinVar RCV Id: RCV000198281 RCV000756204 RCV000789176 RCV002433887
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Ile28Asn
CA337772
NM_001097642.3:c.83T>A