Allele Registry

Canonical Allele Identifier: PA2827785395

Gene: SCN1A HGNC NCBI

ClinVar Allele:

266830

ClinVar RCV:

RCV000307557

RCV002521885

RCV003362741

ClinVar Variation:

282593

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Val859Met	CA1943061 NM_001353958.2:c.2575G>A