Canonical Allele Identifier: PA2827754674
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189970
ClinVar RCV Id: RCV000180924
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Asp1702Glu
CA303444
NM_001353948.2:c.5106T>A
CA349069185
NM_001353948.2:c.5106T>G