Allele Registry

Canonical Allele Identifier: PA2827776378

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187808

ClinVar RCV:

RCV000180925

ClinVar Variation:

189971

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.Tyr815Asp	CA303448 NM_001353954.2:c.2443T>G