Allele Registry

Canonical Allele Identifier: PA2827778375

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180815

RCV000188831

RCV000636365

ClinVar Variation:

189862

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Pro113Thr	CA303135 NM_001353955.2:c.337C>A