Allele Registry

Canonical Allele Identifier: PA916036588

Gene: SCN1A HGNC NCBI

ClinVar Allele:

413560

ClinVar RCV:

RCV000487912

RCV001448434

ClinVar Variation:

425226

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Tyr997Phe	CA1943013 NM_001353958.2:c.2990A>T