Allele Registry

Canonical Allele Identifier: PA2826013719

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV001043566

ClinVar Variation:

841364

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.Thr1630Lys	CA349069929 NM_001165964.3:c.4889C>A