Canonical Allele Identifier: PA2827776548
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68600
ClinVar RCV Id: RCV000059477 RCV001548630
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.His927Tyr
CA285087
NM_001353954.2:c.2779C>T