Allele Registry

Canonical Allele Identifier: PA2830344776

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000187889

RCV001056663

RCV001089685

RCV003315320

ClinVar Variation:

205892

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Pro335Leu	CA315418 NM_172106.3:c.1004C>T