Allele Registry

Canonical Allele Identifier: PA2827786953

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000189008

RCV001067049

ClinVar Variation:

206870

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Met1828Thr	CA317625 NM_001353958.2:c.5483T>C