Allele Registry

Canonical Allele Identifier: PA2827786557

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180961

ClinVar Variation:

190005

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Arg1617Pro	CA303527 NM_001353958.2:c.4850G>C