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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.[Gln124_Trp134delinsArgArgSerAlaSerLysAlaProCysGlyGlyPro;Tyr136_Ser138delinsGlnAlaAla;Ile140_Val153delinsSerSerGlySerSerSerLysProProSerCysThrSer]
CA696362935
NM_004004.6:c.370del