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: PA645422991

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 279817

ClinVar RCV Id: RCV000332290 RCV000549186 RCV002446509

ClinVar Variation Id: 2573137

ClinVar RCV Id: RCV003315384

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Val793Leu	CA9958084 NM_172107.3:c.2377G>T CA409637410 NM_172107.3:c.2377G>C