Allele Registry

Canonical Allele Identifier: PA2827765056

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187796

ClinVar RCV:

RCV000180933

RCV004535159

ClinVar Variation:

189978

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Cys916Phe	CA303467 NM_001353950.2:c.2747G>T