Allele Registry

Canonical Allele Identifier: PA303502

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180948

ClinVar Variation:

189992

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Cys968Phe	CA303499 NM_001165963.4:c.2903G>T