Allele Registry

Canonical Allele Identifier: PA2827789642

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180924

ClinVar Variation:

189970

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Asp1673Glu	CA303444 NM_001353960.2:c.5019T>A CA349069185 NM_001353960.2:c.5019T>G