Canonical Allele Identifier: PA113430
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17023
ClinVar RCV Id: RCV000018550 RCV000080365 RCV000211759 RCV000146005 RCV000515287 RCV001002768 RCV001004396 RCV001270106 RCV002286402 RCV002514109 RCV003458337 RCV003335045
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Val37Ile
CA172210
NM_004004.6:c.109G>A