Allele Registry

Canonical Allele Identifier: PA2828886944

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV003754801

ClinVar Variation:

2855247

HGVS (amino-acid)	Matching Registered Transcripts
NP_001369164.1:p.Asp545Glu	CA10654782 NM_001382235.1:c.1635C>G CA409643747 NM_001382235.1:c.1635C>A