Allele Registry

Canonical Allele Identifier: PA2829676459

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000636304

ClinVar Variation:

530440

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Asp1744Tyr	CA349068333 NM_006920.6:c.5230G>T