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Canonical Allele Identifier: Get Identifier
Gene: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000494596.1:p.[Glu208_Cys217delinsArgTrpCysThrSerSerSerGlyProValPro;Arg219_Pro227delinsGluProSerAlaAlaProIleHisLeu;Ser229Ala;Lys231_His237delinsAlaArgAlaSerAlaThr]
CA2573159496
ENST00000646835.1:c.622del