Allele Registry

Canonical Allele Identifier: PA2826259788

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187753

421307

ClinVar RCV:

RCV000180947

RCV000493892

ClinVar Variation:

189991

429551

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Met1348Ile	CA303495 NM_001202435.3:c.4044G>A CA59769826 NM_001202435.3:c.4044G>C CA349050717 NM_001202435.3:c.4044G>T