Canonical Allele Identifier: PA2741826522
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2836792
ClinVar RCV Id: RCV003742000
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.His123Gln
CA413502054
NM_001097642.3:c.369C>A
CA413502055
NM_001097642.3:c.369C>G