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.[Arg216_Cys218delinsIleValLeuGly;Gly220Gln;Lys223_Lys224delinsGlnPheAsnAlaLeu;Val226delinsSerCys]
CA172239
ENST00000382848.5:c.647_650del