Canonical Allele Identifier: PA2830347315
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1052247
ClinVar RCV Id: RCV001360393

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742106.1:p.Phe670Leu
CA409638982
NM_172108.3:c.2010C>A
CA409638983
NM_172108.3:c.2010C>G
CA409638988
NM_172108.3:c.2008T>C