Allele Registry

Canonical Allele Identifier: PA315522

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000187932

RCV000807433

ClinVar Variation:

205930

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Arg691His	CA315520 NM_172107.3:c.2072G>A