Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2830346629

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 208761

ClinVar RCV Id: RCV000190782 RCV001857675

ClinVar Variation Id: 211234

ClinVar RCV Id: RCV000192641 RCV002317690

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Glu231Asp	CA204842 NM_172108.3:c.693G>C CA205596 NM_172108.3:c.693G>T