Allele Registry

Canonical Allele Identifier: PA2827750970

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000691458

RCV000725552

RCV002408845

ClinVar Variation:

206774

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Thr597Asn	CA317261 NM_001353948.2:c.1790C>A