Allele Registry

Canonical Allele Identifier: PA2827777802

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000636279

ClinVar Variation:

530420

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.Ala1712Val	CA349068800 NM_001353954.2:c.5135C>T