Allele Registry

Canonical Allele Identifier: PA916036755

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000798720

RCV003141788

ClinVar Variation:

644737

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Gly557Cys	CA349050420 NM_001353961.2:c.1669G>T