Allele Registry

Canonical Allele Identifier: PA278568

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000187912

RCV000203596

RCV000678185

RCV000706752

RCV001251207

ClinVar Variation:

205913

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Arg553Trp	CA278566 NM_172107.3:c.1657C>T