Allele Registry

Canonical Allele Identifier: PA2827790639

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV002023102

ClinVar Variation:

1512570

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Lys1000del	CA2573133689 NM_001353961.2:c.2998_3000del