Allele Registry

Canonical Allele Identifier: PA2827787475

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000416974

ClinVar Variation:

375512

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Ser228Pro	CA16044315 NM_001353960.2:c.682T>C