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Canonical Allele Identifier: Get Identifier
Gene: KCNQ2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000359244.2:p.[Pro660_Phe667delinsArgGlnArgProArgProThrLeu;Ala669Pro;Glu671_Asp689delinsSerArgSerArgArgArgArgThrThrAlaArgLysThrAlaGlySerMetSerThr]
CA645608744
ENST00000370224.5:c.1979del