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: PA2826013764

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2959591

ClinVar RCV Id: RCV003811766

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.Phe1650Leu	CA349069595 NM_001165964.3:c.4950C>G CA349069597 NM_001165964.3:c.4950C>A CA349069607 NM_001165964.3:c.4948T>C