Allele Registry

Canonical Allele Identifier: PA1139751090

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000678054

RCV000800574

ClinVar Variation:

21757

HGVS (amino-acid)	Matching Registered Transcripts
NP_742107.1:p.Thr359Lys	CA342462 NM_172109.3:c.1076C>A