Canonical Allele Identifier: PA342505
Gene: KCNQ2 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_742105.1:p.Lys116del
NM_172107.3:c.346_348del

NM_172107.3:c.[346_348del;350A=]

NM_172107.3:c.[346_348del;351G>A]

NM_172107.3:c.[346_348del;351G=]