Allele Registry

Canonical Allele Identifier: PA2827785916

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000478580

RCV003338607

ClinVar Variation:

421777

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Met1239Thr	CA16617297 NM_001353958.2:c.3716T>C