Canonical Allele Identifier: PA113241
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1067767
ClinVar RCV Id: RCV001379119

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Gln80Lys
CA387461563
NM_004004.6:c.238C>A