Allele Registry

Canonical Allele Identifier: PA342477

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000678063

RCV003315297

ClinVar Variation:

21770

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Arg588Ser	CA342475 NM_172107.3:c.1764A>T CA409640538 NM_172107.3:c.1764A>C