Allele Registry

Canonical Allele Identifier: PA2830345145

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000477029

RCV000730650

RCV002408840

RCV003315325

ClinVar Variation:

205924

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Thr587Ser	CA315504 NM_172106.3:c.1760C>G CA409640351 NM_172106.3:c.1759A>T