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: PA1139745398

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 205932

ClinVar RCV Id: RCV000187934 RCV001342149

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001369164.1:p.Phe820Leu	CA315525 NM_001382235.1:c.2458T>C CA409637234 NM_001382235.1:c.2460C>A CA409637235 NM_001382235.1:c.2460C>G