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: PA2825358080

Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 449583

ClinVar RCV Id: RCV000523254 RCV001309572

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035233.1:p.Phe307Leu	CA349018607 NM_001040143.2:c.919T>C CA349018611 NM_001040143.2:c.921C>A CA349018612 NM_001040143.2:c.921C>G