Allele Registry

Canonical Allele Identifier: PA2829675719

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000474433

RCV002222515

RCV003993970

ClinVar Variation:

408940

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Met1240Thr	CA1942888 NM_006920.6:c.3719T>C