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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.[Tyr136del;Ser138_Phe161delinsGlnAlaAlaSerSerSerGlySerSerSerLysProProSerCysThrSerSerMetSerCysThrThrAla;Met163_Arg165delinsProCysSer]
CA953781636
ENST00000382844.2:c.405del