Allele Registry

Canonical Allele Identifier: PA2827787516

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000636289

ClinVar Variation:

530428

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Met251Arg	CA349073597 NM_001353960.2:c.752T>G