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: PA2827292696

Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1518768

ClinVar RCV Id: RCV002024111

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Phe1795Leu	CA384885728 NM_001330260.2:c.5383T>C CA384885746 NM_001330260.2:c.5385C>A CA384885756 NM_001330260.2:c.5385C>G