Allele Registry

Canonical Allele Identifier: PA2827782937

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187764

ClinVar RCV:

RCV000180832

ClinVar Variation:

189879

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Ala1227Pro	CA303188 NM_001353957.2:c.3679G>C