Allele Registry

Canonical Allele Identifier: PA2827789687

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000554528

ClinVar Variation:

461279

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Ser1694Pro	CA349068817 NM_001353960.2:c.5080T>C