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.[Ala49_Asn54delinsProThrLeuSerAla;Leu56_Val63delinsProCysSerGlnAlaAlaArgThr;Tyr65_Ile71delinsAlaThrIleThrThrSerPro;His73_Ala78delinsProThrSerGlyTyrGlyPro]
CA2575364823
NM_004004.6:c.145del