Allele Registry

Canonical Allele Identifier: PA240693

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000724139

RCV000795103

ClinVar Variation:

194616

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Asp1059Val	CA240690 NM_001165963.4:c.3176A>T