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: PA2825944043

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 1299964

ClinVar RCV Id: RCV001730414

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153633.1:p.Phe733Leu	CA059897 NM_001160161.2:c.2199C>G CA72932536 NM_001160161.2:c.2199C>A CA352144561 NM_001160161.2:c.2197T>C