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: PA2827923022

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67823

ClinVar RCV Id: RCV000058598

ClinVar Variation Id: 917994

ClinVar RCV Id: RCV001175239 RCV003656441

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341630.1:p.Phe1249Leu	CA017490 NM_001354701.2:c.3745T>C CA352149188 NM_001354701.2:c.3747C>G CA352149189 NM_001354701.2:c.3747C>A