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: PA2827772168

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 408919

ClinVar RCV Id: RCV000464386 RCV003320649

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.His1918Gln	CA16610265 NM_001353951.2:c.5754C>G CA349063878 NM_001353951.2:c.5754C>A