Allele Registry

Canonical Allele Identifier: PA2829676375

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000636342

ClinVar Variation:

530466

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Asp1691Asn	CA1942691 NM_006920.6:c.5071G>A