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: PA2499231303

Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 1005752

ClinVar RCV Id: RCV001302684 RCV004545192

ClinVar Variation Id: 2295329

ClinVar RCV Id: RCV002868385

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000325.4:p.Met1390Leu	CA8709043 NM_000334.4:c.4168A>T CA400616578 NM_000334.4:c.4168A>C