Allele Registry

Canonical Allele Identifier: PA2827786343

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000487743

RCV001328670

RCV001385358

ClinVar Variation:

425224

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Ala1482Val	CA16621765 NM_001353958.2:c.4445C>T