Allele Registry

Canonical Allele Identifier: PA2828886954

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV001995951

ClinVar Variation:

1483056

HGVS (amino-acid)	Matching Registered Transcripts
NP_001369164.1:p.Met560Leu	CA409643457 NM_001382235.1:c.1678A>T CA409643458 NM_001382235.1:c.1678A>C