Allele Registry

Canonical Allele Identifier: PA2828886567

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV003064617

ClinVar Variation:

2138369

HGVS (amino-acid)	Matching Registered Transcripts
NP_001369164.1:p.Val175Leu	CA10654829 NM_001382235.1:c.523G>C CA409654954 NM_001382235.1:c.523G>T