Allele Registry

Canonical Allele Identifier: PA2830347299

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000187932

RCV000807433

ClinVar Variation:

205930

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Arg660His	CA315520 NM_172108.3:c.1979G>A