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: PA2827769330

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2711277

ClinVar RCV Id: RCV003590499

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Phe178Leu	CA349075514 NM_001353951.2:c.534C>G CA349075515 NM_001353951.2:c.534C>A CA349075523 NM_001353951.2:c.532T>C