Canonical Allele Identifier: PA2827790740
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206875
ClinVar RCV Id: RCV000488340 RCV000692247 RCV001136462 RCV001136463 RCV002345677 RCV003128398
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Gly1066Glu
CA317645
NM_001353961.2:c.3197G>A