Allele Registry

Canonical Allele Identifier: PA916062656

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000678052

RCV002274886

ClinVar Variation:

21755

HGVS (amino-acid)	Matching Registered Transcripts
NP_742107.1:p.Leu339Arg	CA342458 NM_172109.3:c.1016T>G