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Canonical Allele Identifier: Get Identifier
Gene: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000372299.4:p.[Thr18_Leu28delinsLeuGluArgSerGlySerProSerSerSer;Ile30del;Arg32_Ile35delinsAla;Val37_Ala49del]
CA2622252308
ENST00000382848.5:c.51_57del