Allele Registry

Canonical Allele Identifier: PA2830346943

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000478942

RCV000806523

ClinVar Variation:

418633

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Thr359Ala	CA16620967 NM_172108.3:c.1075A>G