Allele Registry

Canonical Allele Identifier: PA2830346887

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000636429

ClinVar Variation:

530528

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Pro335Ser	CA409652083 NM_172108.3:c.1003C>T