Allele Registry

Canonical Allele Identifier: PA2827789796

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV001195896

RCV001863098

ClinVar Variation:

930321

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Tyr1752His	CA349068092 NM_001353960.2:c.5254T>C