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Canonical Allele Identifier: Get Identifier
Gene: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000372295.1:p.[Lys103_Ile111delinsGlnValArgSerThrLeuGln;Ser113del;Phe115_Ile118del;Glu120_Thr123delinsValHis;Lys125_Ile128delinsGlyGlyAspLys;Gly130_Leu132del]
CA2077139585
ENST00000382844.2:c.306_307insCAAGTGAGATCCACTCTTCAGA