Allele Registry

Canonical Allele Identifier: PA916036803

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180797

RCV002517630

ClinVar Variation:

189843

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Pro637Thr	CA303087 NM_001353961.2:c.1909C>A