Allele Registry

Canonical Allele Identifier: PA2830346505

Gene: KCNQ2 HGNC NCBI

ClinVar Allele:

378416

ClinVar RCV:

RCV000732131

RCV001066301

ClinVar Variation:

392510

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Lys162Arg	CA9958810 NM_172108.3:c.485A>G