Allele Registry

Canonical Allele Identifier: PA2827783812

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000636304

ClinVar Variation:

530440

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Asp1727Tyr	CA349068333 NM_001353957.2:c.5179G>T