Allele Registry

Canonical Allele Identifier: PA2830344308

Gene: KCNQ2 HGNC NCBI

ClinVar Allele:

217263

ClinVar RCV:

RCV000203587

RCV000820061

ClinVar Variation:

219241

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Leu107Phe	CA347947 NM_172106.3:c.319C>T