Canonical Allele Identifier: PA213192
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68671
ClinVar RCV Id: RCV000059551 RCV000416094 RCV000537890 RCV000764283 RCV002247465 RCV004019071
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Glu1946Gly
CA213190
NM_006920.6:c.5837A>G