Allele Registry

Canonical Allele Identifier: PA285053

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059457

ClinVar Variation:

68581

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Ala239Val	CA285051 NM_006920.6:c.716C>T