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: PA891862079

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 425223

ClinVar RCV Id: RCV000488105 RCV001476355 RCV004527596 RCV002356797

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Met1959Ile	CA1942628 NM_001165963.4:c.5877G>T CA349063374 NM_001165963.4:c.5877G>C CA349063376 NM_001165963.4:c.5877G>A