Allele Registry

Canonical Allele Identifier: PA916036428

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187798

ClinVar RCV:

RCV000180876

RCV002515209

ClinVar Variation:

189924

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Leu897Ser	CA303322 NM_001353948.2:c.2690T>C