Allele Registry

Canonical Allele Identifier: PA2827769153

Gene: SCN1A HGNC NCBI

ClinVar Allele:

192292

ClinVar RCV:

RCV000474474

RCV000724565

RCV000764287

ClinVar Variation:

195131

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.His127Asp	CA302801 NM_001353951.2:c.379C>G