Allele Registry

Canonical Allele Identifier: PA2826014086

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000189008

RCV001067049

ClinVar Variation:

206870

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.Met1828Thr	CA317625 NM_001165964.3:c.5483T>C