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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.[Met151_Tyr155delinsIleGluLysThrLeuCysHis;Met157_Leu166delinsArgArgLeuLeuHisAlaAlaAlaGlyGlu;Lys168_Asn170delinsGlnArgLeu;Trp172_Asp179delinsLeuSerGlnHisCysGlyLeuLeu;Phe181del;Ser183del]
CA2580086788
XM_011535049.2:c.453_460delinsAGAGAAGAC