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Canonical Allele Identifier: Get Identifier
Gene: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011529209.1:p.Cys283_Ter284insGlyCysHisIleProGlyAsnLeuProSerHisProArgProCysProGlyArgAlaProProSerProLeuProValHisArgProLeuProAlaGlyAspTyrSerIleLysThrPheLeuProTrpLeuLeuProPheLeuProGlyProSerPhe
CA413504541
XM_011530907.2:c.850T>G