Canonical Allele Identifier: PA2826260587
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68660
ClinVar RCV Id: RCV000059540 RCV000489760 RCV000764284 RCV000792317
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001189364.1:p.Glu1795Lys
CA266126
NM_001202435.3:c.5383G>A