Allele Registry

Canonical Allele Identifier: PA1139745396

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000815524

RCV001705016

RCV001847823

RCV002444762

ClinVar Variation:

205850

HGVS (amino-acid)	Matching Registered Transcripts
NP_001369164.1:p.Pro795Ser	CA315318 NM_001382235.1:c.2383C>T