Allele Registry

Canonical Allele Identifier: PA2830347164

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV001995951

ClinVar Variation:

1483056

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Met547Leu	CA409643457 NM_172108.3:c.1639A>T CA409643458 NM_172108.3:c.1639A>C