Allele Registry

Canonical Allele Identifier: PA2827775119

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059549

RCV000494436

RCV000705871

ClinVar Variation:

68669

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340881.1:p.Thr1898Ile	CA285249 NM_001353952.2:c.5693C>T