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Canonical Allele Identifier: Get Identifier
Gene: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000501813.1:p.[Pro184_Met194delinsAlaHisArgGluAsnArgLeuHisArg;Ala196His;Gly199_Ile213delinsCysLeuTrpHisLeuHisHisProGlnCysGlyArgGlyGlyValProHis]
CA1134115405
ENST00000675209.1:c.549_550insG