Allele Registry

Canonical Allele Identifier: PA2827783278

Gene: SCN1A HGNC NCBI

ClinVar Allele:

79436

ClinVar RCV:

RCV000059418

RCV000812820

RCV003224861

ClinVar Variation:

68544

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Pro1423Leu	CA284961 NM_001353957.2:c.4268C>T