Allele Registry

Canonical Allele Identifier: PA2827754877

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV002044256

ClinVar Variation:

1348315

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Val1746Leu	CA1942684 NM_001353948.2:c.5236G>C