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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.[Ser17_Val27delinsHisGlnHisTrpLysAspLeuAlaHisArgPro;Phe29_Ile30delinsHis;Arg32_Ala40delinsSerHisTyrAspProArgCysGlyCys;Glu42_Trp44delinsGlyGlyVal;Asp46Arg]
CA658823500
NM_004004.6:c.49_50del