Canonical Allele Identifier: PA2827787362
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206928
ClinVar RCV Id: RCV000189072 RCV000636394 RCV001252613
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Glu158Gln
CA317752
NM_001353960.2:c.472G>C