Allele Registry

Canonical Allele Identifier: PA2827780789

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000530416

ClinVar Variation:

461280

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Gly1713Asp	CA349068786 NM_001353955.2:c.5138G>A