Allele Registry

Canonical Allele Identifier: PA2827789805

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000578114

RCV002298690

ClinVar Variation:

488186

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Val1755Asp	CA349068040 NM_001353960.2:c.5264T>A