Allele Registry

Canonical Allele Identifier: PA2827760189

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059417

RCV001267274

ClinVar Variation:

68543

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340878.1:p.Ala1430Pro	CA284958 NM_001353949.2:c.4288G>C