Allele Registry

Canonical Allele Identifier: PA2830344407

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000657886

RCV000678123

RCV003064617

ClinVar Variation:

369748

2138369

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Val175Leu	CA10654829 NM_172106.3:c.523G>C CA409654954 NM_172106.3:c.523G>T