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: PA2827753499

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2061575

ClinVar RCV Id: RCV002942835

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Phe1415Leu	CA349049943 NM_001353948.2:c.4245T>G CA349049944 NM_001353948.2:c.4245T>A CA349049949 NM_001353948.2:c.4243T>C