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.[His16_Leu28delinsProProAlaLeuGluArgSerGlySerProSerSerSer;Ile30del;Arg32_Ile35delinsAla;Val37_Asp46del]
CA2622252310
ENST00000382844.2:c.47_50del