Allele Registry

Canonical Allele Identifier: PA2827778500

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000557448

ClinVar Variation:

461284

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Asp194Tyr	CA349075328 NM_001353955.2:c.580G>T