Canonical Allele Identifier: PA284870
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68505
ClinVar RCV Id: RCV000059377 RCV000188854 RCV000554304 RCV000857236 RCV002262611
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Arg393Cys
CA284868
NM_006920.6:c.1177C>T