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Canonical Allele Identifier: Get Identifier
Gene: KCNQ2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000339611.4:p.[Gln778del;Lys780_Ala785delinsProArgArgThrTrpMet;Asn787del;Cys789_Tyr790delinsThr;Val793_Ala794delinsThrArg;Cys796_Lys798delinsTrpArgLeu;Arg800_Gly806delinsProLysSerGlyProThrLeuArgArg;Ser808dup]
CA16043700
ENST00000344462.8:c.2332del