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Canonical Allele Identifier: Get Identifier
Gene: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000363141.1:p.[Thr191_Met194delinsAsnArg;Ala196His;Gly199_Val209delinsCysLeuTrpHisLeuHisHisProGlnCysGlyArgGlyGly;Tyr211_Ala216delinsProHisHisProGlyLeu;Ala218_Arg220delinsProPro]
CA915951212
ENST00000374029.2:c.571dup