Allele Registry

Canonical Allele Identifier: PA2827775416

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187875

ClinVar RCV:

RCV000180958

ClinVar Variation:

190002

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.His127Leu	CA303521 NM_001353954.2:c.380A>T