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Canonical Allele Identifier: Get Identifier
Gene: KCNQ2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000516702.1:p.[Thr671_Phe677delinsGlnArgProArgProThrLeu;Ala679Pro;Glu681_Arg700delinsSerArgSerArgArgArgArgThrThrAlaArgLysThrAlaGlySerMetSerThr]
CA342483
ENST00000706989.1:c.2010del