Allele Registry

Canonical Allele Identifier: PA2827761538

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059444

RCV001854242

ClinVar Variation:

68569

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340878.1:p.Met1769Thr	CA285018 NM_001353949.2:c.5306T>C