Canonical Allele Identifier: PA2825278215
Gene: GJB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 6493
ClinVar RCV Id: RCV000006866 RCV000404541 RCV001510379 RCV002504756
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005752.1:p.Ala194Thr
CA118313
NM_001005752.2:c.580G>A