Allele Registry

Canonical Allele Identifier: PA285074

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059470

RCV002247463

ClinVar Variation:

68594

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Thr864Lys	CA285072 NM_006920.6:c.2591C>A