Allele Registry

Canonical Allele Identifier: PA916062342

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000678117

RCV004530496

ClinVar Variation:

369742

HGVS (amino-acid)	Matching Registered Transcripts
NP_742107.1:p.Thr114Ile	CA10654834 NM_172109.3:c.341C>T