Allele Registry

Canonical Allele Identifier: PA2829531471

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV001995951

ClinVar Variation:

1483056

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Met550Leu	CA409643457 NM_004518.5:c.1648A>T CA409643458 NM_004518.5:c.1648A>C