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: PA307877

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 201541

ClinVar RCV Id: RCV000183127 RCV000620366 RCV003996816

ClinVar Variation Id: 3075439

ClinVar RCV Id: RCV004016957

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_932173.1:p.Glu1864Asp	CA019360 NM_198056.3:c.5592G>T CA352140719 NM_198056.3:c.5592G>C