Allele Registry

Canonical Allele Identifier: PA2827750277

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059372

RCV000997285

ClinVar Variation:

68500

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Pro358Thr	CA284856 NM_001353948.2:c.1072C>A