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
ENSP00000372299.4:p.[Trp134_Thr135insPro;Tyr136_Thr137delinsGlnAlaAla;Ile140_Phe161delinsSerGlySerSerSerLysProProSerCysThrSerSerMetSerCysThrThrAlaSerProCys;Met163_Gln164del]
CA2622252289
ENST00000382848.5:c.403del