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: PA2825131917

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 3072997

ClinVar RCV Id: RCV004015011

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Phe1616Leu	CA352143086 NM_000335.5:c.4848C>G CA352143087 NM_000335.5:c.4848C>A CA352143093 NM_000335.5:c.4846T>C