Allele Registry

Canonical Allele Identifier: PA2827789332

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188964

RCV000986876

RCV001085148

RCV002317151

ClinVar Variation:

206839

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Pro1490Leu	CA317501 NM_001353960.2:c.4469C>T