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: PA2827763823

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1675810

ClinVar RCV Id: RCV002214179

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Met447Ile	CA349070396 NM_001353950.2:c.1341G>T CA349070399 NM_001353950.2:c.1341G>A CA349070402 NM_001353950.2:c.1341G>C