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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.[Val144_Glu147del;Ala149_Val156delinsCysThrSerSer;Tyr158_Phe161del;Met163_Asn170delinsCysThrThr;Trp172Ser;Pro175_Asp179delinsSerGlyTrp]
CA2695217665
ENST00000382844.2:c.431_449del