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: PA2827779290

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 856834

ClinVar RCV Id: RCV001062381

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Thr770Ser	CA349064124 NM_001353955.2:c.2309C>G CA349064129 NM_001353955.2:c.2308A>T