Allele Registry

Canonical Allele Identifier: PA2827772340

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000419539

ClinVar Variation:

379355

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340881.1:p.Asp79Asn	CA16604053 NM_001353952.2:c.235G>A