Allele Registry

Canonical Allele Identifier: PA2827767359

Gene: SCN1A HGNC NCBI

ClinVar Allele:

362323

ClinVar RCV:

RCV000417022

ClinVar Variation:

375515

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Asn1594Ile	CA16044312 NM_001353950.2:c.4781A>T