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Canonical Allele Identifier: Get Identifier
Gene: KCNQ2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000349789.3:p.[Thr509_Phe515delinsGlnArgProArgProThrLeu;Ala517Pro;Glu519_Arg538delinsSerArgSerArgArgArgArgThrThrAlaArgLysThrAlaGlySerMetSerThr]
CA342483
ENST00000357249.6:c.1524del