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Canonical Allele Identifier: Get Identifier
Gene: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011533351.1:p.[Cys169_Asn170delinsLysValGlnArgLeu;Trp172_Asp179delinsLeuSerGlnHisCysGlyLeuLeu;Phe181del;Ser183_Thr186delinsProAlaHisGly;Lys188_Thr192delinsAspCysLeuHisSer;Phe194_Val198delinsHisAspCysSer]
CA2695217661
XM_011535049.2:c.504_505insAAGG