Allele Registry

Canonical Allele Identifier: PA2827752831

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000474433

RCV002222515

RCV003993970

ClinVar Variation:

408940

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Met1251Thr	CA1942888 NM_001353948.2:c.3752T>C