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Canonical Allele Identifier: Get Identifier
Gene: KCNQ2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000353668.3:p.[Gln781del;Lys783_Ala788delinsProArgArgThrTrpMet;Asn790del;Cys792_Tyr793delinsThr;Val796_Ala797delinsThrArg;Cys799_Lys801delinsTrpArgLeu;Arg803_Gly809delinsProLysSerGlyProThrLeuArgArg;Ser811dup]
CA16043700
ENST00000360480.7:c.2341del