Allele Registry

Canonical Allele Identifier: PA2827778041

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000481884

RCV001043102

RCV002350068

ClinVar Variation:

421612

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.Arg1849Gln	CA16617277 NM_001353954.2:c.5546G>A