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
NP_003995.2:p.[Thr18_Trp24delinsLysAspLeuAlaHisArgPro;Thr26_Leu28delinsHis;Ile30_Glu42delinsSerHisTyrAspProArgCysGlyCysLysGlyGly;Trp44del;Asp46_Phe51delinsArg]
CA2499221956
NM_004004.6:c.53_63del