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: PA2499303256

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 998587

ClinVar RCV Id: RCV003770481

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_932173.1:p.Met1793Ile	CA352141245 NM_198056.3:c.5379G>A CA352141246 NM_198056.3:c.5379G>C CA352141247 NM_198056.3:c.5379G>T