Canonical Allele Identifier: PA2827765369
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 449377
ClinVar RCV Id: RCV000522963 RCV001315158
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Asp995Glu
CA1943019
NM_001353950.2:c.2985T>G
CA349060373
NM_001353950.2:c.2985T>A