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: PA2826009474

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1025352

ClinVar RCV Id: RCV001325655

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Lys640Asn	CA349067291 NM_001165963.4:c.1920G>T CA349067292 NM_001165963.4:c.1920G>C