Allele Registry

Canonical Allele Identifier: PA2827786240

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180797

RCV002517630

ClinVar Variation:

189843

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Pro1423Thr	CA303087 NM_001353958.2:c.4267C>A