Allele Registry

Canonical Allele Identifier: PA1139751026

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000478321

RCV000794694

ClinVar Variation:

422045

HGVS (amino-acid)	Matching Registered Transcripts
NP_742107.1:p.Leu356Pro	CA16620968 NM_172109.3:c.1067T>C