Allele Registry

Canonical Allele Identifier: PA2829531563

Gene: KCNQ2 HGNC NCBI

ClinVar Allele:

203715

ClinVar RCV:

RCV000477029

RCV000730650

RCV002408840

RCV003315325

ClinVar Variation:

205924

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Thr577Ser	CA315504 NM_004518.5:c.1730C>G CA409640351 NM_004518.5:c.1729A>T