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: PA2826012993

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2086222

ClinVar RCV Id: RCV003007379

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.Ser1204Arg	CA349055656 NM_001165964.3:c.3612T>G CA349055659 NM_001165964.3:c.3612T>A CA349055672 NM_001165964.3:c.3610A>C