Allele Registry

Canonical Allele Identifier: PA2827773986

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000474433

RCV002222515

RCV003993970

ClinVar Variation:

408940

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340881.1:p.Met1240Thr	CA1942888 NM_001353952.2:c.3719T>C