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Canonical Allele Identifier: Get Identifier
Gene: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.[Trp3Leu;Thr5_Leu10delinsHisAlaAlaAspAspPro;Val13_Gly21delinsCysGluGlnThrLeuHisGlnHisTrp;Ile23_Ile30delinsAspLeuAlaHisArgProLeuHis;Arg32Ser]
CA2695217730
NM_004004.6:c.7dup