Allele Registry

Canonical Allele Identifier: PA2827755012

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000489093

ClinVar Variation:

427080

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Met1780Val	CA349068113 NM_001353948.2:c.5338A>G