Allele Registry

Canonical Allele Identifier: PA2827779668

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000487912

RCV001448434

ClinVar Variation:

425226

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Tyr1013Phe	CA1943013 NM_001353955.2:c.3038A>T