Allele Registry

Canonical Allele Identifier: PA108320

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059492

RCV000433130

RCV001854244

ClinVar Variation:

68615

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Thr112Ile	CA285126 NM_001165963.4:c.335C>T