Allele Registry

Canonical Allele Identifier: PA2826008935

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000557448

ClinVar Variation:

461284

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Asp194Tyr	CA349075328 NM_001165963.4:c.580G>T