Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA2829531897

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2884286

ClinVar RCV Id: RCV003752923

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.His720Gln	CA409638264 NM_004518.5:c.2160C>G CA409638267 NM_004518.5:c.2160C>A