Allele Registry

Canonical Allele Identifier: PA2830344837

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000678054

RCV000800574

ClinVar Variation:

21757

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Thr359Lys	CA342462 NM_172106.3:c.1076C>A