Allele Registry

Canonical Allele Identifier: PA2826260317

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059522

RCV001171717

RCV001711166

RCV003588573

RCV003992175

ClinVar Variation:

68642

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Arg1657Cys	CA266117 NM_001202435.3:c.4969C>T