Canonical Allele Identifier: PA2827784995
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 530498
ClinVar RCV Id: RCV000636379

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Ser551del
CA658795916
NM_001353958.2:c.1651_1653del