Allele Registry

Canonical Allele Identifier: PA658696191

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000578391

RCV001322734

ClinVar Variation:

488537

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Arg541Thr	CA409645148 NM_172107.3:c.1622G>C