Allele Registry

Canonical Allele Identifier: PA2827789683

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188993

ClinVar Variation:

206859

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Thr1692Lys	CA317581 NM_001353960.2:c.5075C>A