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Canonical Allele Identifier: Get Identifier
Gene: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011533351.1:p.[His100_Lys103del;Lys105_Gly109del;Ile111_Ser113del;Phe115_Ile118del;Ile121_Thr123delinsValHis;Lys125_Ile128delinsGlyGlyAspLys;Gly130del]
CA261643
XM_011535049.2:c.299_300del