Allele Registry

Canonical Allele Identifier: PA2829531445

Gene: KCNQ2 HGNC NCBI

ClinVar RCV:

RCV000678191

RCV003754801

ClinVar Variation:

369806

2855247

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Asp535Glu	CA10654782 NM_004518.5:c.1605C>G CA409643747 NM_004518.5:c.1605C>A