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: PA2827292651

Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 444294

ClinVar RCV Id: RCV000512684 RCV001201742

ClinVar Variation Id: 3067144

ClinVar RCV Id: RCV003992833

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Met1760Ile	CA384885163 NM_001330260.2:c.5280G>A CA384885164 NM_001330260.2:c.5280G>C CA384885165 NM_001330260.2:c.5280G>T