This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000372295.1:p.[Gln124_Trp134delinsArgArgSerAlaSerLysAlaProCysGlyGlyPro;Tyr136_Ser138delinsGlnAlaAla;Ile140_Val153delinsSerSerGlySerSerSerLysProProSerCysThrSer]
CA696362935
ENST00000382844.2:c.370del