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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.[Trp134_Thr135insPro;Tyr136_Thr137delinsGlnAlaAla;Ile140_Phe161delinsSerGlySerSerSerLysProProSerCysThrSerSerMetSerCysThrThrAlaSerProCys;Met163_Gln164del]
CA2622252289
XM_011535049.2:c.403del