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: PA330048

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67878

ClinVar RCV Id: RCV000058658 RCV000414661 RCV001842360

ClinVar Variation Id: 659965

ClinVar RCV Id: RCV003539334

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092874.1:p.Arg1432Ser	CA018093 NM_001099404.2:c.4296G>C CA352145549 NM_001099404.2:c.4296G>T