Canonical Allele Identifier: PA2829531799
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1052247
ClinVar RCV Id: RCV001360393

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004509.2:p.Phe673Leu
CA409638982
NM_004518.5:c.2019C>A
CA409638983
NM_004518.5:c.2019C>G
CA409638988
NM_004518.5:c.2017T>C