Allele Registry

Canonical Allele Identifier: PA2827761153

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187721

ClinVar RCV:

RCV000180982

ClinVar Variation:

190026

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340878.1:p.Gly1677Val	CA303590 NM_001353949.2:c.5030G>T