Allele Registry

Canonical Allele Identifier: PA2827780785

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000554528

ClinVar Variation:

461279

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Ser1711Pro	CA349068817 NM_001353955.2:c.5131T>C