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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.[Pro670_Phe677delinsArgGlnArgProArgProThrLeu;Ala679Pro;Glu681_Asp699delinsSerArgSerArgArgArgArgThrThrAlaArgLysThrAlaGlySerMetSerThr]
CA645608744
ENST00000706989.1:c.2009del