Allele Registry

Canonical Allele Identifier: PA2830347048

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000636418

RCV000762355

RCV000765494

RCV003315321

ClinVar Variation:

205906

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Ala472Val	CA315447 NM_172108.3:c.1415C>T