Allele Registry

Canonical Allele Identifier: PA2573307948

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV001995951

ClinVar Variation:

1483056

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Met578Leu	CA409643457 NM_172107.3:c.1732A>T CA409643458 NM_172107.3:c.1732A>C