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: PA2827784252

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68513

ClinVar RCV Id: RCV000059385

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Phe63Leu	CA284883 NM_001353958.2:c.187T>C CA349242879 NM_001353958.2:c.189T>G CA349242881 NM_001353958.2:c.189T>A