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: PA2827922169

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 201469

ClinVar RCV Id: RCV000182995

ClinVar Variation Id: 1906128

ClinVar RCV Id: RCV003776596

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341630.1:p.Cys683Ser	CA015794 NM_001354701.2:c.2048G>C CA352144892 NM_001354701.2:c.2047T>A