Canonical Allele Identifier: PA2827750167
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189962
ClinVar RCV Id: RCV000180916 RCV003588584
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Cys336Tyr
CA303417
NM_001353948.2:c.1007G>A