Allele Registry

Canonical Allele Identifier: PA2829531507

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000678063

RCV003315297

ClinVar Variation:

21770

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Arg560Ser	CA342475 NM_004518.5:c.1680A>T CA409640538 NM_004518.5:c.1680A>C