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: PA2825489748

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 1737393

ClinVar RCV Id: RCV002321312

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092874.1:p.Met1351Ile	CA352147274 NM_001099404.2:c.4053G>T CA352147276 NM_001099404.2:c.4053G>C CA352147278 NM_001099404.2:c.4053G>A