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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.[Ile9_Leu10delinsAspPro;Val13_Gly21delinsCysGluGlnThrLeuHisGlnHisTrp;Ile23_Ile30delinsAspLeuAlaHisArgProLeuHis;Arg32_Val37delinsSerHisTyrAspProArgCys]
CA2695217729
NM_004004.6:c.23_24insA