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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.[Arg104_Lys108delinsGly;Glu110_Lys116del;Ile118_Ile121del;Thr123_Ile128del;Gly130_Thr137del]
CA2695217680
NM_004004.6:c.310_323del