Canonical Allele Identifier: PA2827787470
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68578
ClinVar RCV Id: RCV000059454 RCV000188843 RCV000558296 RCV000763460 RCV001003956 RCV001420531 RCV002470755 RCV003764743
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Thr226Met
CA285042
NM_001353960.2:c.677C>T