Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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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: PA2829530711

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1059815

ClinVar RCV Id: RCV001369174

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004509.2:p.Lys327Asn	CA409652165 NM_004518.5:c.981G>T CA409652166 NM_004518.5:c.981G>C