Allele Registry

Canonical Allele Identifier: PA2826259782

Gene: SCN1A HGNC NCBI

ClinVar Allele:

516559

ClinVar RCV:

RCV000636368

RCV001333849

RCV001731191

RCV003488746

ClinVar Variation:

530487

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Ser1346Pro	CA349050752 NM_001202435.3:c.4036T>C