Allele Registry

Canonical Allele Identifier: PA2827773460

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059470

RCV002247463

ClinVar Variation:

68594

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340881.1:p.Thr864Lys	CA285072 NM_001353952.2:c.2591C>A