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: PA2827762236

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1306292

ClinVar RCV Id: RCV001767245

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340878.1:p.Lys1996Asn	CA349062884 NM_001353949.2:c.5988A>T CA349062885 NM_001353949.2:c.5988A>C