Allele Registry

Canonical Allele Identifier: PA2826260450

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000554528

ClinVar Variation:

461279

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Ser1723Pro	CA349068817 NM_001202435.3:c.5167T>C