Allele Registry

Canonical Allele Identifier: PA2573204847

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV002023102

ClinVar Variation:

1512570

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Lys1814del	CA2573133689 NM_001353948.2:c.5440_5442del