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: PA2827772793

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1497442

ClinVar RCV Id: RCV001996082

ClinVar Variation Id: 1521850

ClinVar RCV Id: RCV002034121

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340881.1:p.Cys351Ser	CA349071397 NM_001353952.2:c.1052G>C CA349071403 NM_001353952.2:c.1051T>A