Canonical Allele Identifier: PA658812532
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 499513
ClinVar RCV Id: RCV000597784 RCV000678865 RCV000727027 RCV002232559 RCV002476305
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Arg32Leu
CA6904322
NM_004004.6:c.95G>T