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Canonical Allele Identifier: Get Identifier
Gene: KCNQ2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000490734.1:p.[Pro451_Phe458delinsArgGlnArgProArgProThrLeu;Ala460Pro;Glu462_Asp480delinsSerArgSerArgArgArgArgThrThrAlaArgLysThrAlaGlySerMetSerThr]
CA645608744
ENST00000637193.1:c.1352del