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.
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Canonical Allele Identifier: PA2826259906

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_001189364.1:p.Phe1415Leu	CA349049943 NM_001202435.3:c.4245T>G CA349049944 NM_001202435.3:c.4245T>A CA349049949 NM_001202435.3:c.4243T>C