Allele Registry

Canonical Allele Identifier: PA2830345090

Gene: KCNQ2 HGNC NCBI

ClinVar Allele:

203724

ClinVar RCV:

RCV000187917

RCV000678190

RCV000763450

RCV000810995

RCV002281569

RCV002317111

ClinVar Variation:

205917

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Asp545Asn	CA315477 NM_172106.3:c.1633G>A