Canonical Allele Identifier: PA340969
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10433
ClinVar RCV Id: RCV000011178 RCV000545060 RCV000789810 RCV002326673 RCV002274895
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Val139Met
CA340967
NM_001097642.3:c.415G>A