Allele Registry

Canonical Allele Identifier: PA2827762713

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180980

ClinVar Variation:

190024

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Met145Val	CA303585 NM_001353950.2:c.433A>G