Allele Registry

Canonical Allele Identifier: PA2827781764

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV001253422

ClinVar Variation:

976200

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Pro358Ala	CA349071329 NM_001353957.2:c.1072C>G