Allele Registry

Canonical Allele Identifier: PA2830344484

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV002250066

RCV003753217

ClinVar Variation:

1685899

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Arg213Leu	CA409654736 NM_172106.3:c.638G>T