Allele Registry

Canonical Allele Identifier: PA2830347143

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000678191

RCV003754801

ClinVar Variation:

369806

2855247

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Asp532Glu	CA10654782 NM_172108.3:c.1596C>G CA409643747 NM_172108.3:c.1596C>A