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.[Lys22_Ile30delinsArgSerGlySerProSerSerSerPhe;Arg32_Ile35delinsAla;Val38_Val52del]
CA2575364825
ENST00000382844.2:c.65del