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: PA2828886503

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2573138

ClinVar RCV Id: RCV003315385

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001369164.1:p.Phe104Leu	CA9958860 NM_001382235.1:c.312C>G CA409656546 NM_001382235.1:c.312C>A CA409656553 NM_001382235.1:c.310T>C