Allele Registry

Canonical Allele Identifier: PA2827786719

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000636279

ClinVar Variation:

530420

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Ala1696Val	CA349068800 NM_001353958.2:c.5087C>T