Allele Registry

Canonical Allele Identifier: PA916036518

Gene: SCN1A HGNC NCBI

ClinVar Allele:

421295

ClinVar RCV:

RCV000493585

RCV002527097

ClinVar Variation:

430087

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Ile1867Thr	CA349065249 NM_001353948.2:c.5600T>C