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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.[Thr18_Trp24delinsLysAspLeuAlaHisArgPro;Thr26_Leu28delinsHis;Ile30_Glu42delinsSerHisTyrAspProArgCysGlyCysLysGlyGly;Trp44del;Asp46_Asp50delinsArg]
CA10575530
NM_004004.6:c.51_62delinsA