Allele Registry

Canonical Allele Identifier: PA1139745377

Gene: KCNQ2 HGNC NCBI

ClinVar Allele:

203715

ClinVar RCV:

RCV000477029

RCV000730650

RCV002408840

RCV003315325

ClinVar Variation:

205924

HGVS (amino-acid)	Matching Registered Transcripts
NP_001369164.1:p.Thr623Ser	CA315504 NM_001382235.1:c.1868C>G CA409640351 NM_001382235.1:c.1867A>T