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: PA2825132541

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 2633114

ClinVar RCV Id: RCV004531619

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Asp1845Glu	CA352140895 NM_000335.5:c.5535C>G CA352140896 NM_000335.5:c.5535C>A