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Canonical Allele Identifier: Get Identifier
Gene: KCNQ2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000487142.1:p.[Thr625_Phe631delinsGlnArgProArgProThrLeu;Ala633Pro;Glu635_Arg654delinsSerArgSerArgArgArgArgThrThrAlaArgLysThrAlaGlySerMetSerThr]
CA342483
ENST00000629241.2:c.1872del