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Canonical Allele Identifier: Get Identifier
Gene: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000495960.1:p.[Thr188_Met194delinsAsnArgLeuHisArg;Ala196His;Gly199_Cys217delinsCysLeuTrpHisLeuHisHisProGlnCysGlyArgGlyGlyValProHisHisProGlyLeu]
CA2580101383
ENST00000647424.1:c.562dup