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.
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Canonical Allele Identifier: PA2827778226

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1306292

ClinVar RCV Id: RCV001767245

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.Lys1995Asn	CA349062884 NM_001353954.2:c.5985A>T CA349062885 NM_001353954.2:c.5985A>C