Allele Registry

Canonical Allele Identifier: PA645402719

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000416974

ClinVar Variation:

375512

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Ser228Pro	CA16044315 NM_006920.6:c.682T>C