Allele Registry

Canonical Allele Identifier: PA2827773391

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187808

ClinVar RCV:

RCV000180925

ClinVar Variation:

189971

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340881.1:p.Tyr816Asp	CA303448 NM_001353952.2:c.2446T>G