Canonical Allele Identifier: PA339220
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 216038
ClinVar RCV Id: RCV000200289 RCV000349313 RCV000790300 RCV002444807 RCV003633486
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Glu102Gly
CA339218
NM_001097642.3:c.305A>G