Allele Registry

Canonical Allele Identifier: PA2829529749

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000478609

RCV001563652

ClinVar Variation:

418726

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Cys169Phe	CA16620976 NM_004518.5:c.506G>T