Allele Registry

Canonical Allele Identifier: PA2826013954

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000489093

ClinVar Variation:

427080

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.Met1752Val	CA349068113 NM_001165964.3:c.5254A>G