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Canonical Allele Identifier: Get Identifier
Gene: KCNQ2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016883334.1:p.[Phe474del;Gly476_Phe477delinsAlaAla;Ile479Ala;Gln481Pro;Lys483_Ala488delinsProArgArgThrTrpMet;Asn490del;Cys492_Tyr493delinsThr;Val496_Ala497delinsThrArg;Cys499_Lys501delinsTrpArgLeu;Arg503delinsProLysSer]
CA2499225799
XM_017027845.1:c.1419del