Allele Registry

Canonical Allele Identifier: PA658664285

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000557448

ClinVar Variation:

461284

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Asp194Tyr	CA349075328 NM_006920.6:c.580G>T