Allele Registry

Canonical Allele Identifier: PA303435

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187718

ClinVar RCV:

RCV000180920

ClinVar Variation:

189966

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Asp1692Val	CA303433 NM_006920.6:c.5075A>T