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Canonical Allele Identifier: Get Identifier
Gene: KCNQ2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742106.1:p.[Thr622_Phe628delinsGlnArgProArgProThrLeu;Ala630Pro;Glu632_Arg651delinsSerArgSerArgArgArgArgThrThrAlaArgLysThrAlaGlySerMetSerThr]
CA342483
NM_172108.3:c.1863del