Allele Registry

Canonical Allele Identifier: PA916036754

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000480007

ClinVar Variation:

421697

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Gly557Arg	CA16617292 NM_001353961.2:c.1669G>C