Allele Registry

Canonical Allele Identifier: PA317652

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000189015

RCV000986869

RCV001071764

ClinVar Variation:

206876

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Met1894Thr	CA317649 NM_001165963.4:c.5681T>C