Allele Registry

Canonical Allele Identifier: PA2830345244

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000187932

RCV000807433

ClinVar Variation:

205930

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Arg673His	CA315520 NM_172106.3:c.2018G>A