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: PA2825131578

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 389297

ClinVar RCV Id: RCV000424008

ClinVar Variation Id: 2663524

ClinVar RCV Id: RCV003442712

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Phe1472Leu	CA16604466 NM_000335.5:c.4414T>C CA352145251 NM_000335.5:c.4416C>G CA352145252 NM_000335.5:c.4416C>A