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: PA2825496988

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 519384

ClinVar RCV Id: RCV000620538 RCV003656130

ClinVar Variation Id: 2027600

ClinVar RCV Id: RCV003658312

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092875.1:p.Met1748Ile	CA352141596 NM_001099405.2:c.5244G>A CA352141598 NM_001099405.2:c.5244G>T CA352141600 NM_001099405.2:c.5244G>C