Allele Registry

Canonical Allele Identifier: PA303190

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187764

ClinVar RCV:

RCV000180832

ClinVar Variation:

189879

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Ala1244Pro	CA303188 NM_006920.6:c.3730G>C