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Canonical Allele Identifier: Get Identifier
Gene: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011533351.1:p.[Phe150_Val156delinsSerCysThrSerSer;Tyr158_Phe161del;Met163_Asn170delinsCysThrThr;Trp172Ser;Pro175_Asp179delinsSerGlyTrp]
CA2580086789
XM_011535049.2:c.449del