Allele Registry

Canonical Allele Identifier: PA1139750821

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000203598

RCV000545675

RCV000763451

RCV001529826

RCV002298526

RCV002510569

RCV003315333

ClinVar Variation:

219235

HGVS (amino-acid)	Matching Registered Transcripts
NP_742107.1:p.Ala306Val	CA347954 NM_172109.3:c.917C>T