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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.[Glu101_Lys103delinsArg;Lys105_Lys108del;Glu110_Lys112delinsSerSer;Glu114_Val126del;Ile128_Glu129del;Ser131Arg]
CA912980095
NM_004004.6:c.301_304del