Canonical Allele Identifier: PA2829531969
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1521221

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004509.2:p.Glu750Lys
CA409637713
NM_004518.5:c.2248G>A