Allele Registry

Canonical Allele Identifier: PA2827786364

Gene: SCN1A HGNC NCBI

ClinVar Allele:

201477

ClinVar RCV:

RCV000188964

RCV000986876

RCV001085148

RCV002317151

ClinVar Variation:

206839

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Pro1491Leu	CA317501 NM_001353958.2:c.4472C>T