Allele Registry

Canonical Allele Identifier: PA278570

Gene: KCNQ2 HGNC NCBI

ClinVar Allele:

177432

ClinVar RCV:

RCV000153394

RCV000203603

RCV000636323

RCV002281562

RCV003315308

RCV003488401

ClinVar Variation:

167208

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Thr274Met	CA278569 NM_172107.3:c.821C>T