Allele Registry

Canonical Allele Identifier: PA315448

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000636418

RCV000762355

RCV000765494

RCV003315321

ClinVar Variation:

205906

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Ala502Val	CA315447 NM_172107.3:c.1505C>T