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Canonical Allele Identifier: Get Identifier
Gene: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000372295.1:p.[Lys112_Trp134delinsValAsnLeuArgThrSerArgArgSerLysProArgArgSerAlaSerLysAlaProCysGlyGlyPro;Tyr136_Ser138delinsGlnAlaAla;Ile140_Phe142delinsSerSer]
CA2575364820
ENST00000382844.2:c.334_337del