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Canonical Allele Identifier: Get Identifier
Gene: KCNQ2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004509.2:p.[Thr625_Phe631delinsGlnArgProArgProThrLeu;Ala633Pro;Glu635_Arg654delinsSerArgSerArgArgArgArgThrThrAlaArgLysThrAlaGlySerMetSerThr]
CA342483
NM_004518.5:c.1872del