Allele Registry

Canonical Allele Identifier: PA2827783987

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000414318

ClinVar Variation:

372740

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Pro1827Leu	CA16042429 NM_001353957.2:c.5480C>T