Canonical Allele Identifier: PA658664495
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 447450
ClinVar RCV Id: RCV000516262 RCV000664825 RCV002506252 RCV000710340 RCV001857902
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Val226Gly
CA6904209
NM_004004.6:c.677T>G