Canonical Allele Identifier: PA916062343
Gene: KCNQ2 HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_742107.1:p.Lys116del
NM_172109.3:c.346_348del

NM_172109.3:c.[346_348del;350A=]

NM_172109.3:c.[346_348del;351G>A]

NM_172109.3:c.[346_348del;351G=]