Allele Registry

Canonical Allele Identifier: PA2827780197

Gene: SCN1A HGNC NCBI

ClinVar Allele:

79429

ClinVar RCV:

RCV000059411

RCV000254970

RCV000804975

RCV002326783

ClinVar Variation:

68537

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Val1378Met	CA284940 NM_001353955.2:c.4132G>A