Allele Registry

Canonical Allele Identifier: PA2827785448

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187796

ClinVar RCV:

RCV000180933

RCV004535159

ClinVar Variation:

189978

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Cys899Phe	CA303467 NM_001353958.2:c.2696G>T