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: PA2827752890

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 3067157

ClinVar RCV Id: RCV003992846

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Met1267Ile	CA349054289 NM_001353948.2:c.3801G>T CA349054291 NM_001353948.2:c.3801G>C CA349054293 NM_001353948.2:c.3801G>A