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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.[Val43_Trp44delinsCys;Asp46_Asn54delinsGluMetSerArgProThrLeuSerAla;Leu56_Val63delinsProCysSerGlnAlaAlaArgThr;Tyr65_Ile71delinsAlaThrIleThrThrSerPro;Ser72_His73insPro]
CA2695217724
NM_004004.6:c.127del