Allele Registry

Canonical Allele Identifier: PA1139750425

Gene: KCNQ2 HGNC NCBI

ClinVar Allele:

354023

ClinVar RCV:

RCV000415385

RCV000678129

RCV000697424

RCV001531362

RCV003315339

ClinVar Variation:

369753

HGVS (amino-acid)	Matching Registered Transcripts
NP_742107.1:p.Arg201His	CA10654826 NM_172109.3:c.602G>A