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: PA2825538237

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 1505367

ClinVar RCV Id: RCV003657620

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092874.1:p.Asn740Lys	CA352144509 NM_001099404.2:c.2220C>G CA352144510 NM_001099404.2:c.2220C>A