Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2827772217

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 893876

ClinVar RCV Id: RCV001133024 RCV001133023

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Asn1956Lys	CA349063275 NM_001353951.2:c.5868C>G CA349063276 NM_001353951.2:c.5868C>A