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: PA2827923016

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 924677

ClinVar RCV Id: RCV001843279 RCV003660867

ClinVar Variation Id: 1023804

ClinVar RCV Id: RCV001729846 RCV004005120

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341630.1:p.Met1244Ile	CA062231 NM_001354701.2:c.3732G>A CA352149230 NM_001354701.2:c.3732G>T CA352149231 NM_001354701.2:c.3732G>C