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: PA2827782872

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1064343

ClinVar RCV Id: RCV001374298

ClinVar Variation Id: 2498837

ClinVar RCV Id: RCV003223046

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Phe1192Leu	CA349055932 NM_001353957.2:c.3576T>G CA349055935 NM_001353957.2:c.3576T>A CA349055945 NM_001353957.2:c.3574T>C