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: PA2827790814

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 408919

ClinVar RCV Id: RCV000464386 RCV003320649

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.His1115Gln	CA16610265 NM_001353961.2:c.3345C>G CA349063878 NM_001353961.2:c.3345C>A