Allele Registry

Canonical Allele Identifier: PA2827783927

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV002023102

ClinVar Variation:

1512570

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Lys1786del	CA2573133689 NM_001353957.2:c.5356_5358del