Allele Registry

Canonical Allele Identifier: PA2827767990

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000479372

ClinVar Variation:

420677

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Pro1748Ser	CA16617281 NM_001353950.2:c.5242C>T