Allele Registry

Canonical Allele Identifier: PA2829676413

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000636279

ClinVar Variation:

530420

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Ala1713Val	CA349068800 NM_006920.6:c.5138C>T