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.
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Canonical Allele Identifier: PA2742019853

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2827423

ClinVar RCV Id: RCV003754379

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742107.1:p.Thr263Ser	CA409653412 NM_172109.3:c.788C>G CA409653415 NM_172109.3:c.787A>T