Canonical Allele Identifier: PA1139716241
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 992242
ClinVar RCV Id: RCV001280637 RCV001664795
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Trp3Cys
CA387462278
NM_004004.6:c.9G>T
CA387462279
NM_004004.6:c.9G>C