Allele Registry

Canonical Allele Identifier: PA916062533

Gene: KCNQ2 HGNC NCBI

ClinVar Allele:

486773

2141206

ClinVar RCV:

RCV000585822

RCV001379936

RCV002944269

ClinVar Variation:

495250

2074244

HGVS (amino-acid)	Matching Registered Transcripts
NP_742107.1:p.Thr277Ser	CA409652735 NM_172109.3:c.830C>G CA409652738 NM_172109.3:c.829A>T