Canonical Allele Identifier: PA273447
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 177735
ClinVar RCV Id: RCV000154345 RCV000505508 RCV001288584
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Gln80Pro
CA273446
NM_004004.6:c.239A>C