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Canonical Allele Identifier: Get Identifier
Gene: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000501757.1:p.[Ala282_Cys283insAspAlaThrTyrGlnAlaThrSerHisProThrProAspProAlaLeuGlyGluProLeuLeuLeuPro;Cys283_Ter284insArgCysThrGly]
CA915951229
ENST00000675368.1:c.843_846del